Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management

Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of sporadic cases. Childhood glaucoma is classified in primary and secondary congenital glaucoma, further divided as glaucoma arising in dysgenesis associated with neural crest anomalies, phakomatoses, metabolic disorders, mitotic diseases, congenital disorders, and acquired conditions. Neural crest alterations lead to the wide spectrum of iridocorneal trabeculodysgenesis. Systemic diseases associated with childhood glaucoma include the heterogenous group of phakomatoses where glaucoma is frequently encountered in the Sturge-Weber syndrome and its variants, in phakomatosis pigmentovascularis associated with oculodermal melanocytosis, and more rarely in neurofibromatosis type 1. Childhood glaucoma is also described in systemic disorders of mitotic and metabolic activity. Acquired secondary glaucoma has been associated with uveitis, trauma, drugs, and neoplastic diseases. A database research revealed reports of childhood glaucoma in rare diseases, which do not include glaucoma in their manifestation. These are otopalatodigital syndrome, complete androgen insensitivity, pseudotrisomy 13, Brachmann-de Lange syndrome, acrofrontofacionasal dysostosis, caudal regression syndrome, and Wolf-Hirschhorn syndrome

Studio della funzione visiva con metodiche psicofisiche (sensibilita' al contrasto e perimetria computerizzata) ed oggettive (potenziali evocati visivi) in corso di diabete giovanile

Dottorato di ricerca in fisiopatologia del microcircolo oculare. 6. ciclo. Coordinatore L. FumagalliConsiglio Nazionale delle Ricerche - Biblioteca Centrale - P.le Aldo Moro, 7, Rome; Biblioteca Nazionale Centrale - P.za Cavalleggeri, 1, Florence / CNR - Consiglio Nazionale delle RichercheSIGLEITItal

Retinal pigment epithelium–photoreceptor layer alterations in a patient with Sturge–Weber syndrome with diffuse choroidal hemangioma

Purpose: To describe an 8-year-old girl with diagnosis of Sturge–Weber syndrome (SWS) presenting with glaucoma, abnormal iris vessels, diffuse choroidal hemangioma, and small white dot-shaped “microdrusen-like” alterations of the retina in the right eye. Patient and methods: Complete ophthalmological examination was performed with slit-lamp anterior segment assessment and fundus ophthalmoscopy. Near infrared reflectance (NIR) and enhanced depth imaging (EDI) spectral domain optical coherence tomography (SD-OCT) were carried out. Results: Microdrusen-like retinal alterations observed with fundus ophthalmoscopy appeared as multiple hyperreflective dots surrounded by a hyporeflective ring on NIR. EDI SD-OCT showed increased choroidal thickness exceeding 1000 μm. B-scan cross-sectional examination on the hyperreflective dots revealed focal alterations of the retinal pigment epithelial (RPE)–photoreceptor layer. Conclusions: The increase of the choroidal thickness due to the diffuse choroidal hemangioma caused alterations of the RPE–photoreceptor layer similar to reticular pseudodrusen or pachychoroid pigment epitheliopathy

Intravitreal Injection of Dexamethasone Implant in Serous Macular Detachment Associated with Waldenström's Disease

Purpose: To evaluate the efficacy of one intravitreal injection of dexamethasone (Ozurdex®; Allergan, Inc., Irvine, Calif., USA) in serous macular detachment (SMD) of one eye, associated with bilateral central retinal vein occlusion (CRVO) in a patient affected by Waldenström's macroglobulinemia (WM). Patients and Methods: A female patient, affected by WM, complained of a progressive decrease in visual acuity, mainly in the left eye (LE). SMD in the LE associated with bilateral CRVO was diagnosed. One intravitreal injection of dexamethasone was administered in the LE and the patient was tested 1, 2, and 6 months after the injection. Results: 1, 2, and 6 months after the injection, the spectral domain optical coherence tomography (SD-OCT) showed a progressive slight reduction of foveal thickness that was not related to any improvement of visual function. Conclusions: Treatment with dexamethasone (Ozurdex) induced a progressive slight reduction of SMD but no improvement of visual acuity, and it is possible that this is related to the condition of hematic hyperviscosity that is present in WM

Spectral domain optical coherence tomography evidence of retinal nerve fiber layer and ganglion cell loss in adult patients with neurofibromatosis type 1

PURPOSE: To evaluate peripapillary retinal nerve fiber layer, macular retinal nerve fiber layer, and ganglion cell layer-inner plexiform layer thickness and analyze their correlations in adult patients with neurofibromatosis Type 1 (NF1) and disease-free controls. METHODS: This cross-sectional study was performed at the Azienda Policlinico Umberto I, University of Rome "La Sapienza." All participants underwent complete ophthalmologic examination. Spectral domain optical coherence tomography was used to evaluate peripapillary retinal nerve fiber layer and obtain retinal segmentation measurements to assess macular retinal nerve fiber layer and ganglion cell layer-inner plexiform layer at 1,000 μm nasal, temporal, superior, and inferior to the fovea. RESULTS: Thirty-four eyes of 17 patients with NF1 (mean age, 42.2 ± 14.3 years) and 34 eyes of 17 disease-free control subjects (mean age, 41.4 ± 12.2 years) were included. All participants had best-corrected visual acuity of 20/20. The mean thickness of peripapillary retinal nerve fiber layer, macular retinal nerve fiber layer, and ganglion cell layer-inner plexiform layer was lower in patients with NF1 with respect to controls (P = 0.003, P = 0.022, P < 0.001, respectively). Regression analysis showed a significant correlation (P < 0.001) between mean ganglion cell layer-inner plexiform layer thickness and mean peripapillary retinal nerve fiber layer thickness in patients with NF1. CONCLUSION: Retinal nerve fiber layer and ganglion cell loss correlate well with each other in adult patients with NF1 in comparison with a healthy control population

Comparative efficacy of acetazolamide and apraclonidine in the control of Intraocular pressure following phacoemulsification

Purpose: The purpose of our study was to compare the effects of systemically administered acetazolamide and topical apraclonidine 0.5% in the control of intraocular pressure (IOP) following phacoemulsification of senile cataracts. Setting: The study was conducted on patients affected by cataract and followed at the Department of Ophthalmology. Methods: Seventy-eight eyes in 78 patients were selected. Twenty-six eyes were randomly assigned to postoperative treatment with topical apraclonidine 0.5%, 26 received oral acetazolamide and the remaining 26 received no hypotensive treatment (control group). Statistical analyses were performed mainly by means of analyis of variance. Results: IOPs measured 24 h after surgery were significantly (p = 0.01) lower in the apraclonidine group compared to the control group. Conclusions: Our double-blind prospective study conducted on patients randomly assigned to treatment with apraclonidine or acetazolamide shows that the former drug is undoubtedly effective in the prevention of IOP increases following phacoemulsification. IOPs recorded in patients treated with this drug were lower than those observed in the acetazolamide and the control groups. Considering the lower risk of toxicity associated with topical administration, apraclonidine 0.5% seems to be preferable to oral acetazolamide in this postoperative setting. Copyright (c) 2006 S. Karger AG, Basel

The influence of learning effect on frequency doubling technology perimetry (Matrix)

PURPOSE: To determine learning effect in healthy patients without perimetric experience, tested with the frequency doubling technology perimetry, with the new model Matrix. PATIENTS AND METHODS: Frequency doubling technology in the 30-2 threshold mode was performed on 37 healthy subjects. Each subject was tested twice in different sessions. The test always began with the right eye (RE) and continued with the left eye (LE). To evaluate learning effect the results of the REs at the first session were compared with those of the LE. The following parameters were evaluated: foveal threshold (FT), reliability indexes, mean defect (MD), pattern standard deviation (PSD), glaucoma hemifield test (GHT), duration of examination. RESULTS: At the first session the average values of RE were FT=30.81 db, MD=-1 db, PSD=3.01 db, and duration of the examination=383.27 "and of LE were FT=30.73, MD=-0.79 db, PSD=2.97 db, and duration of examination 382.62." At the second session the average values of RE were FT=32.22 db, MD=+0.16 db, PSD 2.75 db, and duration of examination=374.97 db. The reliability was different and the GHT between the RE and LE in the first and second session was also different. CONCLUSIONS: A learning effect was observed between the first and the second sessions and the results of the GHT appeared improved. This above all should be taken into account when considering the clinical use of this test to avoid erroneous diagnostic conclusions. © 2007 Lippincott Williams & Wilkins, Inc

Glaucoma Management in Carotid Cavernous Fistula

Carotid cavernous fistulas (CCF) are vascular communications between the carotid artery and the cavernous sinus. Ophthalmologists are called to diagnose and manage the condition in cases that present with ocular features. A 73-year-old female was referred to our glaucoma center clinic. Eight years before, she had started receiving medication for glaucoma and had undergone laser iridotomy, but a satisfactory management of intraocular pressure (IOP) had not been achieved. The patient was complaining of intermittent diplopia, bilateral proptosis, and conjunctival chemosis over the past 6 months. Best-corrected visual acuity in the right (OD) and left eye (OS) was 9/10 and 10/10, respectively. Visual field testing showed slight paracentral field defects mostly in OS. IOP was 20 mm Hg in OD and 34 mm Hg in OS. We referred the patient to neuroradiology, and MRI angiography revealed a CCF with angiographic classification of Cognard grade 2. Closure of the CCF by transarterial embolization was performed in the neuroradiology department. One week following the procedure, the clinical signs of diplopia, proptosis, and conjunctival chemosis had greatly improved, and IOP was reduced to 12 mm Hg OD and 19 mm Hg in OS. Glaucoma treatment was maintained with topical brimatoprost, brinzolamide, and timolol. Owing to the risk of vision loss associated with vascular stasis, retinal ischemia, and high IOP, ophthalmologists must be aware of the clinical features of CCF and should request appropriate imaging studies such as MRI angiography in order to confirm the diagnosis and plan multidisciplinary treatment

Intravitreal Injection of Dexamethasone Implant and Ranibizumab in Cystoid Macular Edema in the Course of Irvine-Gass Syndrome

Purpose: To evaluate the efficacy of 2 dexamethasone intravitreal implants and 1 ranibizumab intravitreal injection after a bilateral postoperative complication of cataract surgery as pseudophakic cystoid macular edema. Patients and Methods: A 70-year-old male patient with systemic hypertension developed a progressive cystoid macular edema (CME) in both eyes starting between 10 and 20 days after cataract surgery. Two intravitreal dexamethasone implants and 1 ranibizumab injection were administered; first in the right eye (RE) and then in the left eye (LE). The patient was checked for 1 whole week and then once a month for 5 months after the injections. Results: One month after the first dexamethasone implant in his RE, the spectral domain optical coherence tomography (SD-OCT) showed a progressive reduction of the foveal thickness until a complete resolution of the CME occurred, which was associated with an improvement of visual acuity. After 3 months, the SD-OCT showed a relapse of the CME, which was then treated with 1 injection of ranibizumab. One month after this injection, there was a complete resolution of the CME. A new CME in his RE was diagnosed 2 months after the last ranibizumab injection; it was treated with a new dexamethasone implant. A complete resolution of the CME was obtained; a normal foveal profile was still present 5 months after the last injection, and the best-corrected visual acuity was 20/20. His LE developed a CME 40 days after surgery. One intravitreal injection of ranibizumab was first administered in his LE, with a complete resolution of the CME at SD-OCT 2 weeks later. As observed in his RE, 40 days after the ranibizumab injection, there was a relapse of the CME that was treated with 1 intravitreal injection of dexamethasone implant. Five months later, the patient showed a worsening of the CME, but it was completely resolved with a second dexamethasone injection. After 3 months, the foveal thickness was back to normal with a BCVA of 20/20. Conclusion: Treatment with dexamethasone implants (Ozurdex®) and ranibizumab injections (Lucentis®) induced a progressive reduction of our patient's CME after cataract surgery (Irvine-Gass syndrome) until a complete normal foveal thickness was restored and his visual function was improved despite the order of injections