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FUNDUS ALBIPUNCTATUS ASSOCIATED WITH CONE DYSFUNCTION.
Laura Kuehlewein1, Fadi Nasser, Nicola Gloeckle
1*Institute for Ophthalmic Research, Center for Ophthalmology, Eberhard Karls University, Tuebingen, Germany; †CeGaT GmbH, Tuebingen, Germany; and ‡Werner Reichardt Center for Integrative Neuroscience, Eberhard Karls University, Tuebingen, Germany.
Retinal Cases & Brief Reports
|September 15, 2016
Summary
This case report details a patient with fundus albipunctatus, a rare genetic disorder, who also experienced cone dysfunction. Genetic testing confirmed mutations in the RDH5 gene, linking these conditions.
Area of Science:
- Ophthalmology
- Genetics
- Retinal Diseases
Background:
- Fundus albipunctatus is a rare inherited retinal disorder characterized by numerous small white-yellow dots in the fundus.
- Cone dysfunction affects color vision and visual acuity, impacting the cone photoreceptor cells in the retina.
Observation:
- A 55-year-old male presented with ophthalmic findings consistent with fundus albipunctatus and cone dysfunction.
- Multimodal imaging, including optical coherence tomography and electroretinography, revealed characteristic abnormalities.
- Electrophysiological recordings were performed after both standard and prolonged dark adaptation.
Findings:
- The patient exhibited fundus findings, OCT, and ERG results indicative of fundus albipunctatus with associated cone dysfunction.
- Genetic analysis identified two heterozygous mutations in the RDH5 gene (c.124C>T; p.Arg42Cys and c.500G>A; p.Arg167His).
Implications:
- This case highlights the association between fundus albipunctatus and cone dysfunction.
- Genetic confirmation of RDH5 mutations provides a molecular basis for the observed phenotype.
- Understanding this link can aid in diagnosing and managing patients with similar retinal conditions.
