1/28. Familial occurrence of retinitis punctata albescens and congenital sensorineural deafness.PURPOSE: To report the cotransmission of retinitis punctata albescens (RPA) and congenital sensorineural deafness. methods: case reports of two siblings with nyctalopia and profound bilateral sensorineural deafness. RESULTS: The affected siblings, an 11-year-old female and a 7-year-old male, presented with decreased visual acuity and night blindness. In both eyes of both siblings, ophthalmoscopic evaluation disclosed numerous white spots at the level of the retinal pigment epithelium with macular sparing. The rod threshold dark adaptation and electroretinogram tracings were consistent with advanced rod-cone degeneration. CONCLUSION: Two affected members of a family were found to exhibit RPA and congenital sensorineural deafness. This pedigree supports the genetic cotransmission of the traits.- - - - - - - - - - ranking = 1keywords = retinitis (Clic here for more details about this article) |
2/28. Fundus albipunctatus and other flecked retina syndromes.BACKGROUND: Several ophthalmic conditions manifest a flecked retina. Developing an understanding of their clinical presentations will enable the practitioner to most appropriately manage these conditions. CASE REPORT: A 27-year-old Middle Eastern woman manifested flecked retinas and nyctalopia. She had been given a diagnosis of retinitis punctata albescens, an inherited, progressive, night blindness; however, the medical history and clinical findings were not consistent with this disorder. Rather, they were consistent with fundus albipunctatus, an autosomal recessive, stationary, night blindness. The clinical presentation of fundus albipunctatus is characterized by discrete, white dots at the level of the retinal pigment epithelium and stable night blindness. A prolonged time for dark adaptation is required to produce normal amplitude electroretinograms in fundus albipunctatus as the result of a delay in the regeneration of rhodopsin. An electroretinogram administered after a prolonged dark adaptation time confirmed the diagnosis of stationary night blindness. CONCLUSION: In order to ensure an accurate diagnosis for fundus albipunctatus, it is important to be aware of the clinical characteristics and appropriate electroretinogram protocol for this disorder.- - - - - - - - - - ranking = 0.2keywords = retinitis (Clic here for more details about this article) |
3/28. Retrobulbar optic neuritis and rhegmatogenous retinal detachment in a fourteen-year-old girl with retinitis pigmentosa sine pigmento.A 14-year-old girl complained of a sudden decrease in right visual acuity. The patient had night blindness, a mottled retina but no pigments, extinguished scotopic electroretinographic response, central scotoma in the right eye and rhegmatogenous retinal detachment. She had initially received laser photocoagulation around the retinal tear and then corticosteroid therapy, cryoretinopexy and segmental buckling. Her right visual acuity increased to 1.0. The association of retinitis pigmentosa sine pigmento, retrobulbar optic neuritis and rhegmatogenous retinal detachment, as demonstrated in our patient, may be uncommon.- - - - - - - - - - ranking = 1keywords = retinitis (Clic here for more details about this article) |
4/28. Atypical retinitis pigmentosa masquerading as a nerve fiber bundle lesion."Sector" or "asymmetric" retinitis pigmentosa was mistaken as bilateral nerve fiber bundle defects in a 56-year-old man for six years, leading to an unnecessary work-up for anterior visual pathway disease and to an incorrect diagnosis of low-tension glaucoma. confusion arises because this variant may present with bilateral, superior, half-ring visual field defects that intersect the blindspots. These defects may be misplotted as typical arcuate Bjerrum's scotomas. The ophthalmoscopic changes that correspond to these visual field defects may be so subtle as to be overlooked. fluorescein angiography helps bring out the retinal lesions, and moderately subnormal electroretinographic and dark adaptation studies are definitive.- - - - - - - - - - ranking = 1keywords = retinitis (Clic here for more details about this article) |
5/28. rhodopsin gene codon 106 mutation (Gly-to-Arg) in a Japanese family with autosomal dominant retinitis pigmentosa.PURPOSE: To examine rhodopsin gene mutations in Japanese patients with retinitis pigmentosa. methods: We performed a mutational analysis of the rhodopsin gene in 42 patients from 40 families with retinitis pigmentosa. Genomic dna was amplified by polymerase chain reaction (PCR) and the PCR products were sequenced. Restriction enzyme analysis was performed in family members of 1 patient with a rhodopsin gene mutation (Gly106Arg) and in 100 normal individuals. RESULTS: Among the patients with retinitis pigmentosa, 3 patients in one family had a heterozygous Gly106Arg mutation of the rhodopsin gene. They had night blindness and sectorial retinal dystrophy (predominantly at the inferior fundus) in both eyes. None of the 100 individuals with normal fundi had the Gly106Arg mutation of the rhodopsin gene. CONCLUSION: The Gly106Arg mutation of the rhodopsin gene has been found in Japanese patients with sectorial retinitis pigmentosa.- - - - - - - - - - ranking = 1.6keywords = retinitis (Clic here for more details about this article) |
6/28. phenotype associated with an R120X nonsense mutation in the RP2 gene in a Japanese family with X-linked retinitis pigmentosa.We examined a Japanese family with X-linked retinitis pigmentosa (RP) associated with a nonsense mutation, R120X, in the RP2 gene. The 26-year-old proband presented at the age of seven years with a two-year history of night blindness. Visual disability worsened with increasing age. At age 24, visual acuity was 0.08 in both eyes. Testing for refractive error indicated mild myopia. visual fields showed bilateral-constriction to 10 degrees. He had central macular areolar sclerosis in both eyes. Two maternal uncles had vision of light perception to hand movement in their early forties together with dense bilateral cataracts. The ocular phenotype of this family with R120X was considered severe; reported phenotypes associated with this mutation have not been uniform.- - - - - - - - - - ranking = 1keywords = retinitis (Clic here for more details about this article) |
7/28. Clinicopathological report of retinitis pigmentosa with vitamin e deficiency caused by mutation of the alpha-tocopherol transfer protein gene.PURPOSE: To discuss the clinicopathological findings in a patient with retinitis pigmentosa (RP) accompanied by a vitamin e deficiency caused by an H101Q mutation in the alpha-tocopherol transfer protein (alpha-TTP) gene. CASE: The clinical course of this patient was followed by conventional ophthalmological examinations over a 3-year period. After the patient died from pancreatic cancer, the eyes were obtained, and examined by light and electron microscopy. OBSERVATIONS: The patient complained of night blindness subsequent to adult-onset ataxia, although the ataxia was very mild. His visual acuity was 0.6 OU, and ophthalmoscopy revealed RP sine pigmento. Ring scotomas were detected, and the electroretinography, electro-oculography, and dark-adaptation were altered. fluorescein angiography showed granular hyperfluorescence around the macula. No progression of the visual and neurological symptoms was observed during the 10 years he was taking oral vitamin E. Histopathological examination revealed the loss of the outer and inner segments of the photoreceptors in the area corresponding to the ring scotoma, as well as a disorganization and shortening of the outer segments in the peripheral retina. CONCLUSIONS: We conclude that the clinical and pathological findings in the eyes of this patient having RP with vitamin e deficiency caused by an H101Q mutation are similar to those of common autosomal recessive RP. However, special attention is required in making a diagnosis of RP with vitamin e deficiency because RP with vitamin e deficiency is medically treatable. The mild Friedreich-type ataxia accompanying the RP may be helpful in identifying this disease.- - - - - - - - - - ranking = 1keywords = retinitis (Clic here for more details about this article) |
8/28. Coats-like lesions in Usher syndrome type II.BACKGROUND: An unusual case of Usher syndrome type II associated with bilateral Coats-like exudative retinopathy is described. methods: A 14-year-old boy with congenital sensorineural deafness and normal vestibular functions presented with a recent history of night blindness. He was followed for 3 years with fundus photography, intravenous fluorescein angiography, electroretinography and audiometric testings. His parents refused any form of treatment. RESULTS: Fundoscopy showed bilateral retinitis pigmentosa and a single focus of subretinal exudation and overlying telangiectatic retinal vessels inferotemporal to the vascular arcade in the right eye. He had bilateral mild macular edema. A year later, a similar lesion developed inferotemporally in the left fundus. electroretinography responses, particularly the rod-mediated signals, were significantly reduced. Audiometric studies documented hearing loss in high frequencies. His visual acuity declined from 20/40 to 20/80 RE and from 20/80 to 20/100 LE during follow-up. No new lesions developed. CONCLUSIONS: Coats-type exudative lesions may develop in patients with Usher syndrome type II. Although left untreated, only a minimal increase in exudation occurred over 3 years.- - - - - - - - - - ranking = 0.2keywords = retinitis (Clic here for more details about this article) |
9/28. Birdshot retinochoroidopathy in monozygotic twins.Birdshot retinochoroidopathy is a rare ocular disorder which was named and delineated as a separate clinical entity by Ryan & Maumenee in 1980. We diagnosed birdshot retinochoroidopathy in a monozygotic pair of twins, who were affected with a time interval of 12 years, respectively. These are the first with birdshot retinochoroidopathy to be reported from the Nordic countries and the first report on this disorder in monozygotic twins. Due to night-blindness, visual field defects and a severely affected electroretinogram one of our cases initially was diagnosed as a choroidoretinal dystrophy. Birdshot retinochoroidopathy should be kept in mind as a differential diagnosis in retinitis pigmentosa-like disorders with widespread choroidal involvement. Our cases substantiated the evidence of a strong correlation with the presence of HLA-A29 antigen.- - - - - - - - - - ranking = 0.2keywords = retinitis (Clic here for more details about this article) |
10/28. A novel compound heterozygous mutation in the cellular retinaldehyde-binding protein gene (RLBP1) in a patient with retinitis punctata albescens.PURPOSE: To describe a patient with retinitis punctata albescens (RPA) associated with compound heterozygosity for two novel mutations in the RLBP1 encoding cellular retinaldehyde-binding protein (CRALBP). DESIGN: Observational case report. methods: The proband underwent a complete ophthalmic examination and leukocyte genomic dna samples were obtained from him and his parents. The RLBP1 exons were analyzed by direct sequencing of PCR-amplified fragments. RESULTS: The patient had a clinical phenotype suggestive of slowly progressive RPA, characterized by numerous yellow-white dots in the fundus. The RLBP1 sequence analysis revealed a novel compound heterozygotic mutation of Gly145Asp and Ile200Thr transmitted from the mother and father, respectively. Analysis of 100 control chromosomes showed no individuals with these sequence alterations. CONCLUSIONS: Only eight RLBP1 mutations have been reported to date, and here we describe two novel mutations. These additional mutations will aid ongoing functional studies and add to our understanding of the molecular pathology pertaining to RLBP1-associated retinopathies.- - - - - - - - - - ranking = 1keywords = retinitis (Clic here for more details about this article) |
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