A healthy 24-year-old woman born from a nonconsanguineous marriage presented with progressively blurred vision in both eyes. Further questioning revealed no history of night blindness, although she disclosed the presence of delayed dark adaptation. Best-corrected visual acuity was 20/40 OD and 20/25 OS with mild anisometropic amblyopia. Anterior-segment examination was unremarkable. Fundus examination revealed the presence of bilateral, numerous, deep yellow flecks (Figure). A diagnosis of fundus albipunctatus (FA) was made, and a full-field electroretinography (ERG) was performed showing Riggs-type ERG with markedly reduced scotopic responses and loss of both a and b waves. FA is a form of hereditary night blindness with autosomal-recessive inheritance.1 FA is the result of a biallelic variation in the gene coding for retinol dehydrogenase 5, which causes a dysfunction of 11-cis retinol dehydrogenase.2,3 Rod damage may be progressive and not stationary; more importantly, there may be associated cone dystrophy, which compromises the visual prognosis.2,4
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CME Disclosure Statement: Unless noted, all individuals in control of content reported no relevant financial relationships. If applicable, all relevant financial relationships have been mitigated.
Corresponding Author: Maamouri Rym, MD, Department of Ophthalmology, Habib Thameur Hospital, 3 Rue Ali Ben Ayed, Montfleury, Tunis 1089, Tunisia (email@example.com).
Conflict of Interest Disclosures: None reported.
Additional Contributions: We thank the patient for granting permission to publish this information.
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