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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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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
AMA CME Accreditation Information

Credit Designation Statement: The American Medical Association designates this Journal-based CME activity activity for a maximum of 1.00  AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Successful completion of this CME activity, which includes participation in the evaluation component, enables the participant to earn up to:

  • 1.00 Medical Knowledge MOC points in the American Board of Internal Medicine's (ABIM) Maintenance of Certification (MOC) program;;
  • 1.00 Self-Assessment points in the American Board of Otolaryngology – Head and Neck Surgery’s (ABOHNS) Continuing Certification program;
  • 1.00 MOC points in the American Board of Pediatrics’ (ABP) Maintenance of Certification (MOC) program;
  • 1.00 Lifelong Learning points in the American Board of Pathology’s (ABPath) Continuing Certification program; and
  • 1.00 CME points in the American Board of Surgery’s (ABS) Continuing Certification program

It is the CME activity provider's responsibility to submit participant completion information to ACCME for the purpose of granting MOC credit.

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