PMID- 21920492 OWN - NLM STAT- MEDLINE DCOM- 20120201 LR - 20211020 IS - 1879-1891 (Electronic) IS - 0002-9394 (Print) IS - 0002-9394 (Linking) VI - 153 IP - 1 DP - 2012 Jan TI - Autofluorescence imaging and spectral-domain optical coherence tomography in incomplete congenital stationary night blindness and comparison with retinitis pigmentosa. PG - 143-54.e2 LID - 10.1016/j.ajo.2011.06.018 [doi] AB - PURPOSE: To test the hypothesis that the evaluation of retinal structure can have diagnostic value in differentiating between incomplete congenital stationary night blindness (CSNB2) and retinitis pigmentosa (RP). To compare retinal thickness differences between patients with CSNB2 and myopic controls. DESIGN: Prospective cross-sectional study. METHODS: Ten eyes of 5 patients diagnosed with CSNB2 (4 X-linked recessive, 1 autosomal recessive) and 6 eyes of 3 patients with RP (2 autosomal dominant, 1 autosomal recessive) were evaluated with spectral-domain optical coherence tomography (SD OCT) and fundus autofluorescence (FAF). Diagnoses of CSNB2 and RP were confirmed by full-field electroretinography (ERG). Manual segmentation of retinal layers, aided by a computer program, was performed by 2 professional segmenters on SD OCT images of all CSNB2 patients and 4 age-similar, normal myopic controls. Seven patients were screened for mutations with congenital stationary night blindness and RP genotyping arrays. RESULTS: Patients with CSNB2 had specific findings on SD OCT and FAF that were distinct from those found in RP. CSNB2 patients showed qualitatively normal SD OCT results with preserved photoreceptor inner segment/outer segment junction, whereas this junction was lost in RP patients. In addition, CSNB2 patients had normal FAF images, whereas patients with RP demonstrated a ring of increased autofluorescence around the macula. On SD OCT segmentation, the inner and outer retinal layers of both X-linked recessive and autosomal recessive CSNB2 patients were thinner compared with those of normal myopic controls, with means generally outside of normal 95% confidence intervals. The only layers that demonstrated similar thickness between CSNB2 patients and the controls were the retinal nerve fiber layer and, temporal to the fovea, the combined outer segment layer and retinal pigment epithelium. A proband and his 2 affected brothers from a family segregating X-linked recessive CSNB2 had a mutation, p.R614X, in the gene encoding calcium channel, alpha 1F subunit. CONCLUSIONS: CSNB2 patients (X-linked recessive and autosomal recessive) had significantly thinner retinas than myopic controls. However, they demonstrated qualitatively normal SD OCT and FAF images, and therefore can be differentiated from RP patients with these techniques. Although ERG testing remains the gold standard for the diagnosis of these conditions, FAF and SD OCT systems are more widely available to community ophthalmologists, offer shorter acquisition times, and, unlike ERG, can be performed on the same day as the initial clinic visit. Therefore, as a supplement to ERG and genetic testing, we advocate the use of FAF and SD OCT in the examination of patients with CSNB2 and RP. CI - Copyright (c) 2012 Elsevier Inc. All rights reserved. FAU - Chen, Royce W S AU - Chen RW AD - Department of Ophthalmology, Columbia University, New York, New York 10032, USA. FAU - Greenberg, Jonathan P AU - Greenberg JP FAU - Lazow, Margot A AU - Lazow MA FAU - Ramachandran, Rithu AU - Ramachandran R FAU - Lima, Luiz H AU - Lima LH FAU - Hwang, John C AU - Hwang JC FAU - Schubert, Carl AU - Schubert C FAU - Braunstein, Alexandra AU - Braunstein A FAU - Allikmets, Rando AU - Allikmets R FAU - Tsang, Stephen H AU - Tsang SH LA - eng GR - R01 EY013435/EY/NEI NIH HHS/United States GR - R01 EY018213/EY/NEI NIH HHS/United States GR - EY018213/EY/NEI NIH HHS/United States GR - P30EY019007/EY/NEI NIH HHS/United States GR - P30 EY019007/EY/NEI NIH HHS/United States GR - EY13435/EY/NEI NIH HHS/United States GR - EY021163/EY/NEI NIH HHS/United States GR - R01 EY021163/EY/NEI NIH HHS/United States PT - Comparative Study PT - Journal Article PT - Research Support, N.I.H., Extramural PT - Research Support, Non-U.S. Gov't PT - Research Support, U.S. Gov't, Non-P.H.S. DEP - 20110913 PL - United States TA - Am J Ophthalmol JT - American journal of ophthalmology JID - 0370500 RN - 0 (CACNA1F protein, human) RN - 0 (Calcium Channels, L-Type) RN - Night blindness, congenital stationary SB - IM MH - Adult MH - Aged MH - Calcium Channels, L-Type/genetics MH - Child MH - Cross-Sectional Studies MH - Electroretinography MH - Eye Diseases, Hereditary MH - *Fluorescein Angiography MH - Genetic Diseases, X-Linked MH - Humans MH - Male MH - Myopia/*diagnosis/genetics/pathology MH - Night Blindness/*diagnosis/genetics MH - Prospective Studies MH - Retina/*pathology MH - Retinitis Pigmentosa/*diagnosis/genetics MH - *Tomography, Optical Coherence MH - Visual Acuity/physiology PMC - PMC4377134 MID - NIHMS659829 EDAT- 2011/09/17 06:00 MHDA- 2012/02/02 06:00 PMCR- 2015/03/29 CRDT- 2011/09/17 06:00 PHST- 2011/03/26 00:00 [received] PHST- 2011/06/10 00:00 [revised] PHST- 2011/06/14 00:00 [accepted] PHST- 2011/09/17 06:00 [entrez] PHST- 2011/09/17 06:00 [pubmed] PHST- 2012/02/02 06:00 [medline] PHST- 2015/03/29 00:00 [pmc-release] AID - S0002-9394(11)00516-2 [pii] AID - 10.1016/j.ajo.2011.06.018 [doi] PST - ppublish SO - Am J Ophthalmol. 2012 Jan;153(1):143-54.e2. doi: 10.1016/j.ajo.2011.06.018. Epub 2011 Sep 13.