Sponsored by:
Suggested Readings A.V. Cideciyan, F. Haeseleer, R.N. Fariss, T.S. Aleman, G-F Jang, C.L. Verlinde, M.F. Marmor, S.G. Jacobson, K. Palczewski. 2000 Rod and cone visual cycle consequences of a null mutation in the 11-cis-retinol dehydrogenase gene in man. Visual Neuroscience, 17: 667-68 T.P. Dryja. 2000 Molecular genetics of Oguchi disease, fundus albipunctatus, and other
References Y. Niwa, M. Kondo, S. Ueno, M. Nakamura, H. Terasaki, Y. Miyake. 2005 Cone and Rod Dysfunction in Fundus Albipunctatus with RDH5 Mutation: An Electrophysiological Study. Investigative Ophthalmology & Visual Science, 46: 1480-1485 G.Querques, P. Carrillo, L. Querques, A.V. Bux, M.V. Del Curatolo, N.D. Noci. 2009 High-Definition Optical Coherence Tomographic Visualization of Photoreceptor
Acknowledgments Sanjeev Nath Jeremy Whitney Alyssa Taussig
Jerome Sherman, OD, FAAO Jerome Sherman, O.D., is perhaps optometry's most prolific writer, publishing over 650 clinical articles, research manuscripts, book chapters and two CDs. He is senior author of three books that were published in 2007, and has delivered over three thousand lectures both nationally and internationally. He has served as a contributing
The following is a list of links to the companies and contributors of:
Comments and Conclusions SD OCT can provide evidence of both photoreceptor loss and RNFL loss in the same eye and help diagnose two apparently unrelated disorders. Although both the fundus albi and the cone dystrophy appear to be non-progressive or very slowly progressive, undetected glaucoma can progress and lead to blindness If untreated. The
Diagnosis and Management Fundus Albipunctatus (FA) is a type of congenital stationary night blindness (CSNB) characterized by multiple yellowish white dots and a delayed course of dark adaptation.1 FA may not be as stationary (or non-progressive) as originally thought and may involve the cone visual pigment as well as rod visual pigment.2 Our patient
ERG Cone Response OS Both the bright single flash with bright background illumination (which bleaches the rod pigment rhodopsin) and the 30 Hz flicker measure cone activity. In this case of fundus albi with cone dystrophy, both cone dominated ERGs are quite reduced in amplitude.
ERG Rod Response OS (S1blue) The ERG Is the best objective test of retinal function. Scotopic or rod dominated ERGS are traditionally measured after 20 minutes of complete dark adaptation. In our patient, the ERG is flat after 20 minutes but is measurable after 3 hrs of dark adaptation. In fundus albipunctatus, dark adaptation has
RNFL measurements with Cirrus™ HD-OCT Cirrus™ HD-OCT reveals a pronounced loss of the retinal nerve fiber layer in a pattern fairly typical of glaucoma. With large and increasing CD ratios but normal IOPs, this likely represents normal tension glaucoma. Field assessment is complicated by large central scotoma and poor fixation OU. See
