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Eld130112.Pdf Letters tions in the literature. This patient uniquely presented with a study including fundus autofluorescence and extensive electrophysiology. more dramatic macular pattern at a much later age than an Retina. 2010;30(1):51-62. average patient with CDSRR and had neither nyctalopia nor 3. Michaelides M, Holder GE, Webster AR, et al. A detailed phenotypic study of “cone dystrophy with supernormal rod ERG.” Br J Ophthalmol. dyschromatopsia. This would suggest not only that the 2005;89(3):332-339. heterogeneity of phenotypes for CDSRR is much broader than 4. Wissinger B, Dangel S, Jägle H, et al. Cone dystrophy with supernormal rod the literature indicates but also that the patient’s 2 novel response is strictly associated with mutations in KCNV2. Invest Ophthalmol Vis mutations are mild, having resulted in compound heterozy- Sci. 2008;49(2):751-757. gosity associated with a late presenting phenotype. 5. Wissinger B, Schaich S, Baumann B, et al. Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response. Hum Mutat. 2011;32(12):1398-1406. Tamara Lee Lenis, MD, MS 6. Smith KE, Wilkie SE, Tebbs-Warner JT, et al. Functional analysis of missense Elona Dhrami-Gavazi, MD mutations in Kv8.2 causing cone dystrophy with supernormal rod Winston Lee, MA electroretinogram. J Biol Chem. 2012;287(52):43972-43983. Sri Krishna Mukkamala, MD Mirela Raluca Tabacaru, MD Peripapillary Chorioretinal Lacunae in a Girl Lawrence Yannuzzi, MD With 3q21.3 to 3q22.1 Microdeletion Peter Gouras, MD With Features of Aicardi Syndrome Stephen H. Tsang, MD, PhD Aicardi syndrome is characterized by the classic triad of agen- esis of the corpus callosum, seizures, and peripapillary chorio- Author Affiliations: Cleveland Clinic Lerner College of Medicine, Case Western retinal lacunae.1 This disorder occurs exclusively in girls and XXY Reserve University, Cleveland, Ohio (Lenis); Department of Ophthalmology, boys and is presumed to be inherited in an X-linked dominant Columbia University, New York, New York (Dhrami-Gavazi, Lee, Mukkamala, Tabacaru, Gouras, Tsang); Department of Pathology and Cell Biology, Columbia pattern, although the causative genes involved have not been University, New York, New York (Lee, Tsang); Vitreous Retina Macula identified. We examined a girl with a microdeletion on chro- Consultants of New York, New York (Mukkamala, Yannuzzi). mosome 3 who was found to have bilateral peripapillary cho- Corresponding Author: Stephen H. Tsang, MD, PhD, Edward S. Harkness Eye rioretinal lacunae with other features of Aicardi syndrome. Institute, 635 W 165th St, Room 218, New York, NY 10032 ([email protected]). Published Online: September 12, 2013. Report of a Case | A girl was born at 32 weeks’ gestation to a doi:10.1001/jamaophthalmol.2013.4681. mother with preeclampsia via induced vaginal delivery. At Author Contributions: Study concept and design: Dhrami-Gavazi, Lee, Mukkamala, Tabacaru, Yannuzzi, Gouras, Tsang. birth, she was noted to have preaxial polydactyly involving her Acquisition of data: Lenis, Dhrami-Gavazi, Lee, Mukkamala, Tabacaru, Yannuzzi, left hand as well as an atrial-septal defect with mild pulmo- Tsang. nary valvular stenosis. At age 18 months, she was evaluated Analysis and interpretation of data: Lenis, Dhrami-Gavazi, Lee, Mukkamala, for speech and motor delay and staring spells. Examination dis- Tabacaru, Yannuzzi, Tsang. Drafting of the manuscript: Lenis, Dhrami-Gavazi, Lee, Mukkamala, Tabacaru, closed a broad flat nasal bridge, epicanthal folds, broad and Gouras, Tsang. wide mouth, retromicrognathia, and truncal hypotonia. A chro- Critical revision of the manuscript for important intellectual content: Lenis, Lee, mosomal microarray study revealed a 6-megabase deletion of Mukkamala, Yannuzzi. chromosome 3, spanning from 3q21.3 to 3q22.1. Obtained funding: Lenis, Mukkamala. Administrative, technical, or material support: Dhrami-Gavazi, Lee, Tabacaru, Ophthalmologic examination showed normal optoki- Yannuzzi, Tsang. netic responses and reactive pupils with no relative afferent Study supervision: Mukkamala, Gouras, Tsang. pupillary defect. She had no strabismus, nystagmus, anterior Conflict of Interest Disclosures: None reported. segment anomalies, or refractive error. Retinal examination Funding/Support: This work was supported by the LuEsther T. Mertz Retinal showed bilateral peripapillary chorioretinal lacunae. In the right Research Center, Manhattan Eye, Ear, and Throat Hospital, Macular Foundation, eye, a normal right optic disc was abutted by a cluster of poorly Inc, core grant 5P30EY019007 from the National Eye Institute, core grant 5P30CA013696 from the National Cancer Institute, and unrestricted funds circumscribed chorioretinal lacunae with hyperpigmented bor- from Research to Prevent Blindness. The Bernard and Shirlee Brown Glaucoma ders superotemporally (Figure 1). In the left eye, a dysplastic Laboratory, Department of Ophthalmology, Columbia University is supported optic disc was encircled by a cluster of well-circumscribed de- by grant R01 EY018213 from the National Institutes of Health, the Foundation pigmented chorioretinal lacunae with variably dense fine pig- Fighting Blindness, Schneeweiss Stem Cell Fund, and the Tistou and Charlotte Kerstan Foundation. Tsang is a member of the RD-CURE Consortium, is a fellow mentation around the borders (Figure 1). The midperipheral of the Burroughs-Wellcome Program in Biomedical Sciences, and has been retinas showed multiple additional streaky areas of focal reti- supported by the Bernard Becker Association of University Professors in nal pigment epithelial depigmentation (Figure 1). Magnetic Ophthalmology Award from Research to Prevent Blindness, the Dennis W. Jahnigen Award from the American Geriatrics Society, the Joel Hoffman resonance imaging showed thinning of the corpus callosum, Scholarship, the Barbara and Donald Jonas Family Fund, and the Professor mildly decreased white matter volume with dilation of the pos- Gertrude Rothschild Stem Cell Foundation. terior aspect of the left lateral ventricle, mild cortical thicken- Role of the Sponsors: The sponsors had no role in the design and conduct of ing with abnormal deep sulcation involving the right parasag- the study; collection, management, analysis, and interpretation of the data; or ittal lobe, and a cavum septum pellucidum (Figure 2). preparation, review, or approval of the manuscript. 1. Gouras P, Eggers HM, MacKay CJ. Cone dystrophy, nyctalopia, and Discussion | In 1946, Krause2 first described the ocular findings supernormal rod responses: a new retinal degeneration. Arch Ophthalmol. 1983;101(5):718-724. of Aicardi syndrome in an infant girl with seizures, develop- 2. Robson AG, Webster AR, Michaelides M, et al. “Cone dystrophy with mental delay, and gray-white plaques in the retina bilaterally. supernormal rod electroretinogram”: a comprehensive genotype/phenotype In 1965, Aicardi et al3 documented the classic findings of this jamaophthalmology.com JAMA Ophthalmology November 2013 Volume 131, Number 11 1485 Copyright 2013 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 09/27/2021 Letters Figure 1. Retinal Photographs A B C D High-magnification photographs showing bilateral peripapillary chorioretinal lacunae in the right (A) and left (B) eyes and low-magnification photographs showing multiple midperipheral oblong depigmented areas in the right (C) and left (D) eyes. Figure 2. Magnetic Resonance Images A B A, T1-weighted sagittal magnetic resonance image demonstrating minimal hypoplasia of the corpus callosum (arrow). B, T2-weighted axial magnetic resonance image demonstrating cortical migration anomaly involving the parasagittal right parietal lobe with thickened gyrus (small arrow) abutting the lateral ventricle. There is also bilateral white matter hypoplasia with dilation of the posterior horn of the left lateral ventricle (large arrow) and a cavum septum pellucidum (asterisk). syndrome in a series of girls with infantile spasms, absence of third cerebral ventricle, cerebral hemispheric asymmetry, the corpus callosum on pneumoencephalogram, and abnor- Dandy-Walker variant, colpocephaly, choroid plexus papillo- mal eye findings (microphthalmia, coloboma, and atrophic cho- mas, and enlargement of the tectum.4,5 Aicardi syndrome may roiditis). The latter finding corresponds to chorioretinal lacu- also be associated with systemic anomalies such as vertebral nae, which consist of well-circumscribed, full-thickness defects malformations (eg, fused vertebrae, scoliosis, spina bifida), cos- limited to the retinal pigment epithelium and choroid, with an tal malformations (eg, absent ribs, fused or bifurcated ribs), intact overlying retina that may appear histologically muscular hypotonia, microcephaly, dysmorphic facies, au- abnormal.1 Subsequent reports documented multiple struc- ricular anomalies, and gastrointestinal tract dysfunction. A con- tural central nervous system abnormalities in Aicardi syn- stellation of facial anomalies (prominent premaxilla, up- drome including cortical migration anomalies (eg, pachygy- turned nasal tip, decreased angle of the nasal bridge, and sparse ria, cortical heterotopia, and polymicrogyria), cysts around the lateral eyebrows) has also been described in Aicardi syndrome.6 1486 JAMA Ophthalmology November 2013 Volume 131, Number 11 jamaophthalmology.com Copyright 2013 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 09/27/2021 Letters According
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