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Ophthalmology
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Causes include long-term chloroquine use, some types of cone dystrophy (Fig. 7.37), cone–rod dystrophy, rod–cone dystrophy, juvenile neuronal ceroid lipofuscinosis, benign concentric annular macular dystrophy (usually late onset) and Stargardt disease (macular dystrophy starting in teens).
Bardet−Biedl Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Differential diagnoses for BBS include conditions which demonstrate clinical resemblances, including McKusick-Kaufman syndrome (MKKS, autosomal recessive disorder; causing the triad of hydrometrocolpos, postaxial polydactyly, and congenital heart disease, as well as genitourinary abnormalities, underdeveloped lungs, gastrointestinal abnormalities, and kidney defects; due to mutations in the BBS6/MKKS gene), Alstrom syndrome (autosomal recessive disorder; causing cone-rod dystrophy, obesity, progressive sensorineural hearing impairment, dilated cardiomyopathy, insulin-resistant diabetes mellitus syndrome, and developmental delay; due to ALMS1 mutations), Joubert syndrome (autosomal recessive disorder; causing episodic hyperpnea, developmental delay, intellectual disability, hypotonia, oculomotor apraxia, ataxia, vermis hyoplasia or agenesis, characteristic molar tooth sign on cranial magnetic resonance imaging, retinal dystrophy, cystic dysplasia and nephronophthisis, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities; due to mutations in NPHP1, AHI1, CEP290/NPHP6, TMEM67/MKS3, RPGRIP1L, CC2D2A, ARL13B, INPP5E, OFD1, TMEM216, KIF7, TCTN1, TCTN2, TMEM237, CEP41, TMEM138, CPLANE1, and TTC21B), Senior−Løken syndrome (autosomal recessive disorder; causing retinitis pigmentosa, cystic renal dysplasia, nephronophthisis, medullary cystic kidneys, polycystic kidneys., cerebellar vermis hypoplasia, ataxia, developmental delay, intellectual disability, occipital encephalocele, and oculomotor apraxia; due to mutations in CEP290, NPHP1, NPHP3, NPHP4, IQCB1, and SDCCAG8), Meckel syndrome (autosomal recessive disorder causing the triad of occipital encephalocele, large polycystic kidneys, and postaxial polydactyly as well as orofacial clefting, genital anomalies, CNS malformations, fibrosis of the liver, pulmonary hypoplasia; due to distinct mutations in the BBS2, BBS4, and BBS6 genes), Leber congenital amaurosis (causing severe dystrophy of the retina, nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia, and keratoconus, eye poking, pressing, and rubbing; due to mutations n GUCY2D, RPE65, SPATA7, AIPL1, LCA5, RPGRIP1, CRX, CRB1, IMPDH1, RD3, RDH12, and CEP290; mutations in LRAT and TULP1 may be associated with an LCA-like phenotype), Biemon syndrome type II (autosomal recessive disorder; causing iris coloboma, intellectual disability, obesity, polydactyly, hypogonadism, hydrocephalus, and facial dysostosis), Prader−Willi syndrome (genetic disorder; causing hypotonia, feeding difficulties, failure to thrive, short stature, genital abnormalities, excessive appetite, progressive obesity, cognitive impairment, temper tantrums, obsessive/compulsive behavior, skin picking; due to nonfunctional genes in a region of chromosome 15) [26,37].
Neuro-Ophthalmic Literature Review
Published in Neuro-Ophthalmology, 2023
David A. Bellows, Noel C.Y. Chan, John J. Chen, Hui-Chen Cheng, Peter W MacIntosh, Collin McClelland, Michael S. Vaphiades, Konrad P. Weber, Xiaojun Zhang
ROSAH (Retinal dystrophy, Optic nerve oedema, Splenomegaly, Anhidrosis, and Headache) syndrome is an autosomal dominant-inherited disease associated with innate immune activation, which is caused by mutations in the ALPK1 gene. The authors conducted an observational study to investigate the ocular phenotype of patients with ROSAH syndrome. They enrolled 11 patients with genetically proven ROSAH syndrome, including six females and five males from seven families and age range of 7.3 to 60.2 years. Best-corrected visual acuity ranged from 20/16 to no light perception. Nine patients had signs of intraocular inflammation including keratic precipitates, band keratopathy, anterior chamber cells, cystoid macular oedema and retinal vasculitis. Ten patients had peripapillary retinal nerve fibre layer thickening on optical coherence tomography. Seven patients had retinal degeneration with cone-rod dystrophy. One patient had decreased Arden ratio on electrooculogram. The authors concluded that optic nerve involvement, intra-ocular inflammation, and retinal degeneration may contribute to changes in visual function of patients with ROSAH syndrome.
Variability of retinopathy consequent upon novel mutations in LAMA1
Published in Ophthalmic Genetics, 2022
Elena R. Schiff, Nancy Aychoua, Savita Nutan, Indran Davagnanam, Anthony T. Moore, A. G. Robson, C. K. Patel, Andrew R. Webster, Gavin Arno
Patient II-1 is an 11-year-old girl born at term whose parents were concerned about poor visual responses in early infancy. Examination at 3 months of age revealed high myopia and ocular motor apraxia. She was prescribed spectacles for high myopia. Fundus examination raised concern about bilateral retinal abnormalities and an examination under anaesthetic (EUA) and RETCAM fluorescein angiography (FFA) was performed (supplementary Figure S2). This examination revealed bilateral iris hypoplasia (Figure 5 OD-A and OS-A, B), bilateral dysplastic optic discs, and hypopigmented fundi with situs inversus of the retinal vessels in the right and a persistent fetal vasculature (PFV) in the left eye. There was a focal area of chorioretinal atrophy in each eye (Figure 5 OD-B, OS-C, D). In each eye, there was a lack of retinal vessels in the temporal periphery. FFA of the right eye demonstrated incomplete retinal vascularisation of the temporal retina (imaging of the left eye was difficult due to the PFV). Electrodiagnostic evaluation revealed a mild cone-rod dystrophy. Over time it became apparent that she had delayed speech and motor development and hypoplasia of dental enamel (Figure 5 T). MRI scan revealed bilateral cerebellar hemispheric dysplasia with cysts and hypoplasia of the cerebellar vermis (supplementary Figure S3).
Clinical characteristics, imaging findings, and genetic results of a patient with CEP290-related cone-rod dystrophy
Published in Ophthalmic Genetics, 2021
Ferran Vilaplana, Andrea Ros, Belen Garcia, Ignacio Blanco, Elisabeth Castellanos, Nicholas John Edwards, Xavier Valldeperas, Susana Ruiz-Bilbao, Antonio Sabala
Cone-rod dystrophy (CORD, OMIM #120970), is a common form of inherited retinal degeneration. Impairment of cone photoreceptors is the main feature, but rod photoreceptor dysfunction may be present. This disease usually manifests itself with photophobia, reduced visual acuity, color vision defects, and central scotoma. More than 30 genes have been associated with CORD (1). Besides, CEP290 (MIM*#610142) genetic variants have been described in one case of cone dystrophy (2) and to our knowledge, no fundus retinography, optical coherence tomography (OCT) characteristics, or fundus autofluorescence (FAF) findings have been published. Herein, we report the case of a 57-year-old female with a clinical diagnosis of CORD related to compound heterozygous pathogenic variants in CEP290.