Initial assessment and follow-up of a myopic child: A clinical evaluation tool

Myopia comprises the leading cause of visual impairment in childhood, showing a global rapid rise in prevalence over the past years.  Myopia progression has been related with a number of ocular complications potentially resulting in blindness, including glaucoma, macular degeneration, cataract, and retinal detachment. Etiopathogenesis of this disorder is regarded multifactorial, involving both environmental and genetic components. Near work activities are believed to play a key role in myopic development, owing to the induced hyperopic defocus on the peripheral retina that may result in axial elongation. Other parameters including outdoor exposure, physical activity and digital screen time are also hypothesized to be connected with myopic development. Ocular examination of myopic subjects should include visual acuity assessment, refraction, biometry and choroidal thickness measurements, as well as evaluation of the accommodative functions. We propose a clinical assessment tool, as a useful guide for all eye care professionals examining and treating juvenile myopes

Peripapillary Neovascular Membrane in a Young Pregnant Woman and Prompt Response to Ranibizumab Injections following Uneventful Delivery

Purpose: Occurrence of choroidal neovascularization (CNV) during pregnancy has been reported as a complication of presumed ocular histoplasmosis syndrome or punctuate inner chorioretinopathy. To our knowledge, idiopathic CNV (ICNV) during pregnancy has only been reported once in the relevant literature. Bevacizumab has been used for the treatment of ICNV in small case series. However, there is limited experience regarding the use of ranibizumab for the management of ICNV. Case Report: A 31-year-old woman in the eighth month of her second pregnancy was diagnosed with mild macular and papillary edema. She was followed up using biomicroscopy, fluorescein angiography (FA), and optical coherence tomography (OCT). After 3 months, visual acuity further deteriorated and funduscopy, FA and OCT findings revealed a juxtapapillary choroidal neovascular membrane (CNVM). After two ranibizumab injections, best-corrected visual acuity increased significantly, physiological macular anatomy was restored and no subretinal fluid was observed. Discussion: In this case report, we present a young pregnant patient with peripapillary ICNV and neurosensory detachment involving the macula, and treatment of the eye with intravitreal ranibizumab following uneventful delivery. Increased angiogenic factor levels associated with pregnancy may contribute to the onset of CNV although this relationship has to be investigated experimentally. The rapid response to ranibizumab suggests that this anti-VEGF agent may be an alternative treatment option in the management of peripapillary ICNV

Surgical approach in a case of unilateral retinal pigment epithelium dysgenesis and literature review

Purpose: To present a case of unilateral retinal pigment epithelium dysgenesis (URPED) complicated with tractional retinal detachment and macular hole formation, and highlight the successful anatomical and functional restoration following surgical repair. To conduct an updated review of the literature. Observations: A 16-year-old asymptomatic female presented with a unilateral atypical peripapillary lesion of the retinal pigment epithelium (RPE) in the left eye. At baseline, best corrected visual acuity (BCVA) was 20/20 and anterior segment examination was unremarkable. Fundus examination revealed an irregularly shaped atrophy of the RPE adjacent to the optic disc with scalloped border of RPE hyperplasia and a fibroglial proliferation in the overlying retina. Optical coherence tomography demonstrated mild changes of the RPE and the outer retina layers. Three years after initial diagnosis, the patient was referred to our clinic due to blurry vision. Complete ophthalmological evaluation revealed tractional retinal detachment with full thickness macular hole formation. Pars plana vitrectomy with epiretinal membrane removal and internal limiting membrane peeling led to anatomical recovery of the macular area with BCVA of 20/32 at four-months postoperatively. Conclusions and importance: This is the first report of tractional retinal detachment and macular hole as rare complications of URPED. Systematic follow-up examinations seem to be essential for the prevention of permanent visual loss, whereas prompt surgical intervention can contribute to visual acuity restoration in complicated cases

Bilateral herpes simplex virus-related peripheral ulcerative keratitis leading to corneal perforation in a patient with primary herpes simplex virus infection

Purpose: To present a case of bilateral peripheral ulcerative keratitis (PUK) caused by primary herpes simplex virus-1 (HSV-1) infection resulting in corneal perforation. Case Report: A 24-year-old man presented at the eye casualty of our clinic, with a 20-day history of severe pain, redness, photophobia, and tearing in both of his eyes. Slit-lamp examination revealed bilateral superior corneal perforation. A laboratory work-up that included immunological testing for infectious and autoimmune factors showed primary HSV infection. Positive PCR analysis of corneal scrapings for HSV confirmed initial end-organ ocular infection. Because the patient showed progressive HSV-1-related PUK resulting in bilateral superior corneal perforation with iris prolapse, he was prescribed both systemic and topical acyclovir and prednisone. He then underwent bilateral surgical intervention, namely eccentric penetrating keratoplasty in one eye and a two step procedure in the other, whereby two corneal patch grafts and an amniotic membrane transplant were initially used, followed 1 month later by a large diameter penetrating keratoplasty. Conclusion: In cases of PUK, differential diagnosis should include infectious and autoimmune diseases. Primary HSV should also be considered as a potential cause of this form of keratitis, which, if left untreated, can lead to devastating outcomes. To our knowledge, this is the first published case of bilateral PUK caused by primary HSV-1 infection

Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration

PURPOSE: To report a large, consanguineous Algerian family affected with Leber congenital amaurosis (LCA) or early-onset retinal degeneration (EORD). METHODS: All accessible family members underwent a complete ophthalmic examination, and blood was obtained for DNA extraction. Homozygosity mapping was performed with markers flanking 12 loci associated with LCA. The 15 exons of TULP1 were sequenced. RESULTS: Seven of 30 examined family members were affected, including five with EORD and two with LCA. All patients had nystagmus, hemeralopia, mild myopia, and low visual acuity without photophobia. Fundus features were variable among EORD patients: typical spicular retinitis pigmentosa or clumped pigmented retinopathy with age-dependent macular involvement. A salt-and-pepper retinopathy with midperipheral retinal pigment epithelium (RPE) atrophy was present in the older patients with LCA, whereas the retina appeared virtually normal in the younger ones. Both scotopic and photopic electroretinograms were nondetectable. Fundus imaging revealed a perifoveal ring of increased fundus autofluorescence (FAF) in the proband, and optical coherence tomography disclosed a thinned retina, mainly due to photoreceptor loss. Linkage analysis identified a region of homozygosity on chromosome 6, region p21.3, and mutation screening revealed a novel 6-base in-frame duplication, in the TULP1 gene. CONCLUSIONS: Mutation in the TULP1 gene is a rare cause of LCA/EORD, with only 14 mutations reported so far. The observed intrafamilial phenotypic variability could be attributed to disease progression or possibly modifier alleles. This study provides the first description of FAF and quantitative reflectivity profiles in TULP1-related retinopathy

Chiasmatic Infiltration Secondary to Late Malignant Transformation of Retinoma

To report the lethal course of malignant transformation of retinoma in an adult