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Numerous Peripheral Retinal Yellow Flecks in an Adult Woman

To identify the key insights or developments described in this article
1 Credit CME

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.

Article Information

Corresponding Author: Maamouri Rym, MD, Department of Ophthalmology, Habib Thameur Hospital, 3 Rue Ali Ben Ayed, Montfleury, Tunis 1089, Tunisia (ryma.maamouri@fmt.utm.tn).

Conflict of Interest Disclosures: None reported.

Additional Contributions: We thank the patient for granting permission to publish this information.

References
1.
Marmor  MF .  Long-term follow-up of the physiologic abnormalities and fundus changes in fundus albipunctatus.   Ophthalmology. 1990;97(3):380-384. doi:10.1016/S0161-6420(90)32577-0PubMedGoogle ScholarCrossref
2.
Nakamura  M , Skalet  J , Miyake  Y .  RDH5 gene mutations and electroretinogram in fundus albipunctatus with or without macular dystrophy: RDH5 mutations and ERG in fundus albipunctatus.   Doc Ophthalmol. 2003;107(1):3-11. doi:10.1023/A:1024498826904PubMedGoogle ScholarCrossref
3.
Thompson  DA , Gal  A .  Vitamin A metabolism in the retinal pigment epithelium: genes, mutations, and diseases.   Prog Retin Eye Res. 2003;22(5):683-703. doi:10.1016/S1350-9462(03)00051-XPubMedGoogle ScholarCrossref
4.
Querques  G , Carrillo  P , Querques  L , Bux  AV , Del Curatolo  MV , Delle Noci  N .  High-definition optical coherence tomographic visualization of photoreceptor layer and retinal flecks in fundus albipunctatus associated with cone dystrophy.   Arch Ophthalmol. 2009;127(5):703-706. doi:10.1001/archophthalmol.2009.87PubMedGoogle ScholarCrossref
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