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BackgroundFoveal hypoplasia (FH) in the absence of albinism, aniridia, microphthalmia, or achromatopsia is exceedingly rare, and the molecular basis for the disorder remains unknown. FH is characterized by the absence of both the retinal foveal pit and avascular zone, but with preserved retinal architecture. SLC38A8 encodes a sodium‐coupled neutral amino acid transporter with a preference for glutamate as a substrate. SLC38A8 has been linked to FH. Here, we describe a novel mutation to SLC38A8 which causes FH, and report the novel use of OCT‐angiography to improve the precision of FH diagnosis. More so, we used computational modeling to explore possible functional effects of known SLC38A8 mutations.MethodsFundus autofluorescence, SD‐OCT, and OCT‐angiography were used to make the clinical diagnosis. Whole‐exome sequencing led to the identification of a novel disease‐causing variant in SLC38A8. Computational modeling approaches were used to visualize known SLC38A8 mutations, as well as to predict mutation effects on transporter structure and function.ResultsWe identified a novel point mutation in SLC38A8 that causes FH. A conclusive diagnosis was made using OCT‐angiography, which more clearly revealed retinal vasculature penetrating into the foveal region. Structural modeling of the channel showed the mutation was near previously published mutations, clustered on an extracellular loop. Our modeling also predicted that the mutation destabilizes the protein by altering the electrostatic potential within the channel pore.ConclusionOur results demonstrate a novel use for OCT‐angiography in confirming FH, and also uncover genotype–phenotype correlations of FH‐linked SLC38A8 mutations.

Diffuse unilateral subacute neuroretinitis (DUSN) secondary to raccoon roundworm (Baylisascaris procyonis) infection has been reported in rural and suburban areas of North America and Europe with extant raccoon populations. Here, we present a case of Baylisascaris-induced DUSN from the densely populated borough of Brooklyn in New York City and alert urban ophthalmologists to consider this etiology even in areas not typically thought to be associated with endemic risk factors. Infected raccoons also occur in urban settings, and urban patients may be exposed in surrounding areas. Most patients with Baylisascaris ocular larva migrans-DUSN will not have concomitant neurologic disease; this fact and larval neurotropism are both misconceptions regarding this infection.

Scleral buckling is an excellent procedure for retinal reattachment but can induce disabling refractive errors. Laser in situ keratomileusis (LASIK) has been proven effective for the reduction of refractive errors induced by ophthalmic surgery. We describe the case of a 53-year-old man who developed symptomatic anisometropia after placement of a scleral buckle for repair of a rhegmatogenous retinal detachment (RD). After the scleral buckling procedure, he retained excellent best corrected visual acuity but could not tolerate spectacle or contact lens correction. Thirty-four months after the scleral buckling procedure, LASIK was performed to correct myopic astigmatism with excellent refractive and functional results. This case demonstrates that LASIK may be safe and effective for the correction of refractive errors induced by RD repair.

PurposeTo describe a case of retrobulbar optic neuritis that presented within 3 weeks of adalimumab treatment initiation.MethodsThis index case was evaluated with visual field testing, brain magnetic resonance imaging, lumbar puncture, and laboratory evaluation, and treated with intravenous methylprednisolone followed by a steroid taper.ResultsOur patient made a full visual recovery, but was found to have extensive T2/FLAIR foci of hyperintensities that enhanced and had restricted diffusion on magnetic resonance imaging (MRI). Six months later, these demyelinating lesions still persisted and our patient was initiated on immunomodulatory treatment.ConclusionWith the extensive burden of disease at presentation and persistence of lesions on follow-up MRI, this unusual case seems to suggest an unmasking of an underlying demyelinating process by adalimumab. The clinician should be mindful of this association and monitor for any manifestations and treat appropriately.