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Research Letter |

Novel Compound Heterozygous Mutations Resulting in Cone Dystrophy With Supernormal Rod Response

Tamara Lee Lenis, MD, MS1; Elona Dhrami-Gavazi, MD2; Winston Lee, MA2,3; Sri Krishna Mukkamala, MD2,4; Mirela Raluca Tabacaru, MD2; Lawrence Yannuzzi, MD4; Peter Gouras, MD2; Stephen H. Tsang, MD, PhD2,3
[+] Author Affiliations
1Cleveland Clinic Lerner College of Medicine, Case Western Reserve University, Cleveland, Ohio
2Department of Ophthalmology, Columbia University, New York, New York
3Department of Pathology and Cell Biology, Columbia University, New York, New York
4Vitreous Retina Macula Consultants of New York, New York
JAMA Ophthalmol. 2013;131(11):1482-1485. doi:10.1001/jamaophthalmol.2013.4681.
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Cone dystrophy with supernormal rod response (CDSRR) (RCD3B, OMIM #610356) was first described in 2 siblings by Gouras et al1 in 1983. In subsequent reports, it has been characterized as a rare autosomal recessive retinal disorder associated with a delayed and markedly decreased cone and rod response that exhibits an exaggerated, or superthreshold, rod electroretinogram (ERG) in response to higher stimulus levels.2 Reports of CDSRR commonly describe an early onset of dyschromatopsia, photophobia, and central scotoma with poor best-corrected visual acuity.3 Associated signs and symptoms include nyctalopia, nystagmus, and macular retinal pigment epithelium changes.3,4

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Figure 1.
Color Photographs, Fundus Autofluorescence Images, and Optical Coherence Tomographic Images

Color photographs of the right (A) and left (B) eyes demonstrate bilateral macular atrophy (dotted inset) with pale optic nerves with peripapillary atrophy (white arrowheads) and diffuse retinal pigment epithelial changes. There was also a significant amount of asteroid hyalosis (black arrowhead) in the right eye (A). These magnified images of the macula highlight the graduated atrophy corresponding to the bright deposits around the fovea in both eyes (A and B) exhibiting a hyperreflective crystalline appearance. Fundus autofluorescence images of the right (C) and left (D) eyes demonstrate hypoautofluorescent areas suggestive of central atrophy with a surrounding ring of hyperautofluorescence corresponding to lipofuscin accumulation in the retinal pigment epithelium likely secondary to incomplete degradation of photoreceptor outer segments. These autofluorescence findings correlate with retinal optical coherence tomographic imaging of the right (E) and left (F) eyes showing diffuse outer retinal atrophy bilaterally.

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Figure 2.
International Society for Clinical Electrophysiology of Vision–Standardized Full-Field Electroretinograms

The mean and typical traces in the right (A) and left (B) eyes of the patient are shown, and electroretinograms from an age-matched control subject with results within 2 SDs of the normal mean values representative of normal traces in this age group are shown for comparison (C). In the patient, photopic cone and 30-Hz Flicker responses were reduced and significantly delayed, the scotopic rod-specific response was delayed and reduced, and the maximal response was notably higher and more prolonged compared with the normative control.

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