When a large refractive error is found in children, should we immediately order electroretinography?

Electroretinography is a useful tool used in diagnosing retinal disorders. Refractive errors are a common and increasing group of abnormalities, which, if undiagnosed, may lead to complications. Physiologically, i.e., refraction of the child’s eye, evolves from myopic or hyperopic after birth, towards emmetropic. However, high refractive errors tend to present with retinal diseases. Early electroretinography is a great diagnostic test that allows its detection. Because of that, it can help avoid loss of eyesight and prevent future implications. Unfortunately, low accessibility and interpretational difficulties are main barriers in wider implementation of that method

Comparison of visual evoked potential parameters in acute optic neuritis

INTRODUCTION: The aim of the work is to compare the visual evoked potentials in patients with acute optic neuritis. MATERIAL AND METHODS: A retrospective review of 49 patients (53% of women, median age: 32 yrs ± 13) who had history of sudden unilateral visual loss was carried out. The patients were divided into three groups: retrobulbar optic neuritis associated with multiple sclerosis, retrobulbar neuritis without demyelinating disease and optic disc edema. The control group comprised healthy, young adults. Comparison of the P100 wave latencies and amplitudes among affected eyes and the control group, and between the affected and the unaffected eye in every patient was statistically analyzed by the U Mann-Whitney test and the Wilcoxon test. The statistically significant p value < 0.05 RESULTS: 64 affected eyes and 34 control eyes were evaluated. The mean P100 latency was the most prolonged in the first group (optic neuritis with confirmed multiple sclerosis). There were no statistically significant differences of amplitudes among the three groups. The P100 values differ significantly (p < 0.01) between the affected eyes and the control eyes. Inter-ocular differences in peak latencies (for both stimulus check size 1° and 15’) were significantly increased in the group with multiple sclerosis (respectively p = 0.005; p = 0.026). CONCLUSIONS: VEPs can be used to demonstrate prolonged P100 latency in patients affected by acute optic neuritis related to demyelination, but VEP only is not sufficient to clearly define the etiology of the optic neuropathy. Prolonged VEP latencies are a more accurate indicator of an inflammatory disorder of the optic nerve than P100 amplitudes.WSTĘP: Porównano parametry wzrokowe potencjałów wywołanych wzorcem (pattern visual evoked potentials – PVEP) u pacjentów z ostrym zapaleniem nerwu wzrokowego. MATERIAŁ I METODY: Retrospektywną analizą objęto 49 pacjentów (53% kobiet; mediana wieku 32 lata ± 13), zgłaszających nagłe pogorszenie widzenia w jednym oku. Pacjentów podzielono na trzy grupy: pozagałkowe zapalenie nerwu wzrokowego na tle stwardnienia rozsianego; pozagałkowe zapalenie nerwu wzrokowego bez potwierdzonego tła demielinizacyjnego oraz pacjenci z obrzękiem tarczy n. II. Grupę kontrolną stanowili zdrowi, młodzi dorośli. Porównano parametry PVEP typu przejściowego (latencję i amplitudę fali P100) pomiędzy oczami z powyższych grup, a oczami grupy kontrolnej oraz pomiędzy okiem chorym i zdrowym u każdego pacjenta. Użyto testu U Manna- -Whitney’a i testu kolejności par Wilcoxona. Przyjęto poziom istotności p < 0,05. WYNIKI: Przeanalizowano wyniki PVEP 64 oczu chorych i 34 oczu zdrowych. Średnia latencja fali P100 była najdłuższa w grupie oczu z potwierdzonym MS. Nie wykazano statystycznie istotnych różnic amplitud pomiędzy oczami z grup chorych. Parametry fali P100 różniły się istotnie (p < 0,01) pomiędzy oczami chorymi a oczami grupy kontrolnej. Międzyoczne różnice latencji dla obu pobudzeń 1° i 15’ były największe w grupie chorych ze stwardnieniem rozsianym (odpowiednio p = 0,005; p = 0,026). WNIOSKI: W PVEP u chorych z ostrym zapaleniem nerwu wzrokowego obserwuje się wydłużenie latencji P100 sugerujące tło demielinizacyjne, ale samo badanie nie wystarcza do rozróżnienia przyczyny leżącej u podłoża neuropatii. Wydłużona latencja fali P100 jest dokładniejszym wskaźnikiem zapalenia nerwu wzrokowego niż jej amplituda

Comparison of visual evoked potential parameters in acute optic neuritis

INTRODUCTION: The aim of the work is to compare the visual evoked potentials in patients with acute optic neuritis. MATERIAL AND METHODS: A retrospective review of 49 patients (53% of women, median age: 32 yrs ± 13) who had history of sudden unilateral visual loss was carried out. The patients were divided into three groups: retrobulbar optic neuritis associated with multiple sclerosis, retrobulbar neuritis without demyelinating disease and optic disc edema. The control group comprised healthy, young adults. Comparison of the P100 wave latencies and amplitudes among affected eyes and the control group, and between the affected and the unaffected eye in every patient was statistically analyzed by the U Mann-Whitney test and the Wilcoxon test. The statistically significant p value < 0.05 RESULTS: 64 affected eyes and 34 control eyes were evaluated. The mean P100 latency was the most prolonged in the first group (optic neuritis with confirmed multiple sclerosis). There were no statistically significant differences of amplitudes among the three groups. The P100 values differ significantly (p < 0.01) between the affected eyes and the control eyes. Inter-ocular differences in peak latencies (for both stimulus check size 1° and 15’) were significantly increased in the group with multiple sclerosis (respectively p = 0.005; p = 0.026). CONCLUSIONS: VEPs can be used to demonstrate prolonged P100 latency in patients affected by acute optic neuritis related to demyelination, but VEP only is not sufficient to clearly define the etiology of the optic neuropathy. Prolonged VEP latencies are a more accurate indicator of an inflammatory disorder of the optic nerve than P100 amplitudes.WSTĘP: Porównano parametry wzrokowe potencjałów wywołanych wzorcem (pattern visual evoked potentials – PVEP) u pacjentów z ostrym zapaleniem nerwu wzrokowego. MATERIAŁ I METODY: Retrospektywną analizą objęto 49 pacjentów (53% kobiet; mediana wieku 32 lata ± 13), zgłaszających nagłe pogorszenie widzenia w jednym oku. Pacjentów podzielono na trzy grupy: pozagałkowe zapalenie nerwu wzrokowego na tle stwardnienia rozsianego; pozagałkowe zapalenie nerwu wzrokowego bez potwierdzonego tła demielinizacyjnego oraz pacjenci z obrzękiem tarczy n. II. Grupę kontrolną stanowili zdrowi, młodzi dorośli. Porównano parametry PVEP typu przejściowego (latencję i amplitudę fali P100) pomiędzy oczami z powyższych grup, a oczami grupy kontrolnej oraz pomiędzy okiem chorym i zdrowym u każdego pacjenta. Użyto testu U Manna- -Whitney’a i testu kolejności par Wilcoxona. Przyjęto poziom istotności p < 0,05. WYNIKI: Przeanalizowano wyniki PVEP 64 oczu chorych i 34 oczu zdrowych. Średnia latencja fali P100 była najdłuższa w grupie oczu z potwierdzonym MS. Nie wykazano statystycznie istotnych różnic amplitud pomiędzy oczami z grup chorych. Parametry fali P100 różniły się istotnie (p < 0,01) pomiędzy oczami chorymi a oczami grupy kontrolnej. Międzyoczne różnice latencji dla obu pobudzeń 1° i 15’ były największe w grupie chorych ze stwardnieniem rozsianym (odpowiednio p = 0,005; p = 0,026). WNIOSKI: W PVEP u chorych z ostrym zapaleniem nerwu wzrokowego obserwuje się wydłużenie latencji P100 sugerujące tło demielinizacyjne, ale samo badanie nie wystarcza do rozróżnienia przyczyny leżącej u podłoża neuropatii. Wydłużona latencja fali P100 jest dokładniejszym wskaźnikiem zapalenia nerwu wzrokowego niż jej amplituda

State of prevention of eye diseases in selected group of children from Silesian Voivodeship – preliminary communication

BACKGROUND: Undiagnosed eye defects in childhood affect adult life and can cause irreversible changes. The aim of the study is to evaluate the state of preventing eye diseases in a selected group of children from the Silesian Voivodeship. METHODS: The study was based on an anonymous questionnaire consisting of 11 questions about the prevention of eye diseases and included 603 parents of children aged from 2–10 (4.84 ± 1.47). RESULTS: Among the selected group, 43.45% children were at least once examined by an ophthalmologist. The aver-age age during the appointment was 3.06 ± 1.71. For 101 children it was a prophylaxis visit and for 142 it was due to alarming symptoms. 52 (8.62%) children had eye defects and 44 of them wore glasses. The most common eye defect was strabismus (5.47%). Regular eye exams by an ophthalmologist were reported by 11.61% parents. The study showed that 40.13% children have never had a visual acuity examination. Among the group, 35.16% parents men-tioned alarming symptoms of eye defects and the information sources were: doctor (28.9%), the Internet (27.5%), newspapers (18.2%). CONCLUSIONS: 1. The prevention of eye diseases among pre-school children is insufficient. 2. The state of parent’s knowledge about the prevention of eye disease and defects among children is low.WSTĘP: Objawy chorób oczu u dzieci mogą pozostać niezauważone, co może mieć wpływ na późniejsze problemy w nauce i dorosłym życiu. Wczesna korekcja wady daje szansę na pełne wyleczenie. MATERIAŁ I METODY: Narzędzie badawcze stanowiła anonimowa, autorska ankieta, skierowana do rodziców grupy dzieci województwa śląskiego. Badaniem objęto 603 rodziców dzieci w wieku 2–10 lat (śr. 4,84 ± 1,47). Ankieta zawierała 11 pytań otwartych i zamkniętych dotyczących stanu profilaktyki chorób narządu wzroku. Uzyskane wyniki poddano analizie statystycznej. WYNIKI: W analizowanej grupie 262 dzieci (43,45%) było przynajmniej raz w życiu badane przez okulistę. Średni wiek dziecka podczas wizyty wynosił 3,06 ± 1,71 roku, 94 (35,88%) dzieci było badanych powyżej 4 roku życia. Dla 101 dzieci była to wizyta profilaktyczna, dla 142 powodem pierwszej wizyty u okulisty były dolegliwości lub niepokojące objawy. Wadę wzroku dziecka deklarowało 52 (8,62%) ankietowanych rodziców, grupy tej 44 dzieci no-si/nosiło wcześniej okulary. W badanej grupie najczęściej zgłaszano występowanie zeza – 33 (5,47%). Regularne wizyty dziecka u okulisty zgłosiło 70 (11,61%) rodziców – najczęściej z powodu kontroli wady wzroku (n = 28) oraz profilaktyki (n = 25). 242 (40,13%) dzieci nie miało nigdy badanej ostrości wzroku, u 170 (28,2%) ostrość wzroku badał okulista, u 112 (18,6%) pediatra lub lekarz rodzinny. Objawy wymagające konsultacji okulistycznej wymianiało 212 (35,16%) rodziców. Głównymi źródłami informacji dla rodziców na ten temat są: lekarz (28,9%), Internet (27,5%), prasa (18,2%). WNIOSKI: 1. Profilaktyka chorób narządu wzroku u dzieci w wieku przedszkolnym jest niewystarczająca. 2. Poziom wiedzy rodziców w zakresie profilaktyki chorób oczu i wad wzroku u dzieci jest niski

The impact of various factors on the occurrence and type of visual experiences during the cataract surgery

Aims: The aim was to check whether there is a relationship between ophthalmic and non-ophthalmic concomitant diseases and visual experiences during surgery. In addition, we wanted to verify whether visual experiences are influenced by such factors as age, gender, education, stress, etc. Methods: The patients phoned a few days after the surgery in order to be interviewed post-operatively by a 30-question questionnaire. Questions were asked on demographic data, concomitant diseases, both ophthalmic and non-ophthalmic, emotional and visual experiences during the cataract surgery p-value was calculated from the Chi-Square Test. Results: The study comprised 121 women and 87 men. 63.9% of patients underwent cataract surgery for the first time. Among 208 respondents 73 (35.1%) had light impressions and 77 (37%) reported visual impressions. Patients under 60 were more likely to experience both light and visual impressions (p < 0.05). Particular visual defects and concomitant diseases, both ophthalmic and non-ophthalmic, can influence the type of visual experiences. Stress was positively correlated with the occurrence of both light and visual impressions (p < 0.05) but it did not influence the exact type of visual experiences. For half of the respondents (51.0%), the impressions seen during the surgery were neutral. Only 14.4% of patients assessed these sensations as pleasant. Conclusion: Patients experienced a variety of visual sensations, which are not usually unpleasant, however they occurred more often among stressed patients and could also raise the stress level. Proper preoperative counselling is needed to help patients cope with the stress before surgery

Phenotypic Variation of Autosomal Recessive Leber Hereditary Optic Neuropathy (arLHON) in One Family

Leber hereditary optic neuropathy (LHON) is a rare disease with a prevalence of 1 in 25,000 births. LHON usually presents in young males, with painless loss of visual acuity in one or both eyes. Recently an autosomal recessive form of the disease (arLHON or LHONAR) has been described, which is caused by a biallelic mutation in the DNAJC30 gene (usually a missense mutation c.152A>G). The phenotypic and clinical characteristics of patients with arLHON are similar to those of mtLHON, but some differences have been described. Therapy is problematic and challenging. This paper describes clinical and electrophysiological findings in one family (three children and two parents) with arLHON and emphasizes the role of Photopic Negative Response Electroretinography, which provides objective measurement of retinal ganglion cells function. In Leber hereditary optic neuropathy, abnormal retinal ganglion cells function can be found in both eyes, even if visual acuity loss only occurs in one eye. Early clinical diagnosis, confirmed by genetic analysis, may be the key to sight-preserving treatment

Ocular toxoplasmosis associated with unilateral pigmentary retinopathy that may mimic retinitis pigmentosa : diagnostic dilemmas

We report a unique case of coexisting pigmentary retinopathy and ocular toxoplasmosis in a young male patient. A 23-year-old man presented with sudden visual deterioration in the left eye (LE). The fundus findings revealed bone spicule-shaped pigment deposits, a slightly pale optic disc, arteriole constriction, cystoid macular edema with an epiretinal membrane, and two small inflammatory chorioretinal scars in the right eye, with a concentric narrowing of the visual field and a nonrecordable multifocal electroretinogram (ERG). An active inflammatory lesion at the border of a pre-existing chorioretinal scar in the macula was found in the LE, with a central scotoma in the visual field. Moreover, the patient tested positive for anti-Toxoplasma gondii immunoglobulin G antibodies and showed positive results in polymerase chain reaction testing of aqueous humor. Fluorescein angiography revealed hyperfluorescence in the early phase with fluorescein leakage. A multifocal ERG of the LE showed selective loss of responses from the central 10 degrees. Genetic testing revealed heterozygosity in the RP1 and CELSR1 genes. Our case illustrates challenges in the diagnosis of unilateral pigmentary retinopathy. Based on the typical toxoplasmic lesions in the LE and two scars likely caused by inflammation, our patient was diagnosed with pigmentary retinopathy probably related to toxoplasmosis. Genetic consultation did not confirm the diagnosis of retinitis pigmentosa, but more advanced tests might be needed to definitively exclude it

Aland Island Eye Disease with Retinoschisis in the Clinical Spectrum of <i>CACNA1F</i>-Associated Retinopathy—A Case Report

Aland island eye disease (AIED), an incomplete form of X-linked congenital stationary night blindness (CSNB2A), and X-linked cone-rod dystrophy type 3 (CORDX3) display many overlapping clinical findings. They result from mutations in the CACNA1F gene encoding the α1F subunit of the Cav1.4 channel, which plays a key role in neurotransmission from rod and cone photoreceptors to bipolar cells. Case report: A 57-year-old Caucasian man who had suffered since his early childhood from nystagmus, nyctalopia, low visual acuity and high myopia in both eyes (OU) presented to expand the diagnostic process, because similar symptoms had occurred in his 2-month-old grandson. Additionally, the patient was diagnosed with protanomalous color vision deficiency, diffuse thinning, and moderate hypopigmentation of the retina. Optical coherence tomography of the macula revealed retinoschisis in the right eye and foveal hypoplasia in the left eye. Dark-adapted (DA) 3.0 flash full-field electroretinography (ffERG) amplitudes of a-waves were attenuated, and the amplitudes of b-waves were abolished, which resulted in a negative pattern of the ERG. Moreover, the light-adapted 3.0 and 3.0 flicker ffERG as well as the DA 0.01 ffERG were consistent with severely reduced responses OU. Genetic testing revealed a hemizygous form of a stop-gained mutation (c.4051C>T) in exon 35 of the CACNA1F gene. This pathogenic variant has so far been described in combination with a phenotype corresponding to CSNB2A and CORDX3. This report contributes to expanding the knowledge of the clinical spectrum of CACNA1F-related disease. Wide variability and the overlapping clinical manifestations observed within AIED and its allelic disorders may not be explained solely by the consequences of different mutations on proteins. The lack of distinct genotype–phenotype correlations indicates the presence of additional, not yet identified, disease-modifying factors

Pułapki diagnostyczne w chorobach oczodołu – analiza i porównanie dwóch przypadków

Proptosis is a characteristic sign that might suggest the diagnosis of different diseases. Proptosis is characterised by the anterior displacement of the eye and its protrusion. The most commonly associated symptoms of proptosis are deteriorated vision, elevated intraocular pressure and inflammation of periocular tissues. The presented study describes two cases of patients with proptosis and periocular pain. In each case, the primary cause of proptosis was initially incorrectly diagnosed and required in-depth diagnostics. In Patient A extrabulbar optic neuritis caused by Lyme disease was suspected and treated with steroids and antibiotics. Subsequently, Graves’ disease was diagnosed and treated with anti-thymocyte globulin. Complete loss of vision was observed after one month of treatment. Radiotherapy and steroid therapy were introduced. Afterwards, the patient’s vision was restored. Patient B, who was treated for hypothyroidism, was admitted to the hospital with elevated intraocular pressure, double vision, a restricted visual field and proptosis. The primary diagnosis was Graves’ ophthalmopathy (GO). However, after in-depth imaging and pathomorphological studies of a specimen taken from the orbit, B-cell lymphoma was diagnosed. After the introduction of correct treatment, significant improvement was noted. Presented work indicates that in-depth diagnostics are crucial when it comes to the differential diagnosis of GO and a tumor of the orbital cavity.Wytrzeszcz jest objawem charakterystycznym w różnych jednostkach chorobowych. To przemieszczenie gałki ocznej oraz jej wysunięcie do przodu. Pacjentom z wytrzeszczem najczęściej towarzyszą takie objawy, jak pogorszenie widzenia, wzrost ciśnienia śródgałkowego oraz zapalenie tkanek okołooczodołowych. W pracy opisano dwa przypadki pacjentów z objawami wytrzeszczu oraz bólu okołogałkowego, którego pierwotna przyczyna nie została właściwie rozpoznana i wymagała pogłębionej diagnostyki. U pacjenta A wysunięto podejrzenie pozagałkowego zapalenia nerwu wzrokowego w przebiegu choroby z Lyme, leczonego glikokortykosteroidami i antybiotykami. Następnie rozpoznano chorobę Gravesa i zastosowano leczenie globuliną antytymocytarną. Po miesiącu terapii zaobserwowano całkowitą utratę wzroku. Wdrożono radioterapię i sterydoterapię, uzyskując powrót widzenia. Pacjent B, leczony przewlekle na niedoczynność tarczycy, zgłosił się do szpitala z podwyższonym ciśnieniem śródgałkowym, dwojeniem, ograniczeniem pola widzenia oraz wytrzeszczem. Początkowo diagnostyka wskazywała na oftalmopatię Gravesa (Graves’ ophthalmopathy – GO). Jednak po wykonaniu badań obrazowych oraz patomorfolo-gicznych pobranego z oczodołu wycinka stwierdzono chłoniaka z drobnej komórki B. Po wprowadzeniu leczenia nastąpiła znaczna poprawa. W pracy pokazano, jak ważna w przypadku rozpoznania różnicowego pomiędzy chorobami o etiologii zapalnej i nowotworowej jest pogłębiona diagnostyka