Brian P. Brooks

Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine Transport

Mukhtar Ullah, Atta Ur Rehman, Madhur Shetty, Michael D. Allen et autres

Importance: Inherited retinal dystrophies are a group of disorders that may lead to progressive vision loss. Improved knowledge of their molecular genetics is important for accurate diagnosis or development of targeted therapies. Objective: To identify pathogenic variants in the SLC6A6 gene (encoding …

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Ampyrone (4-Aminoantipyrine) is a Direct Agonist of Human Tyrosinase and Potential Therapeutic for Oculocutaneous Albinism and Disorders of Hypopigmentation

Monika B. Dolinska, Yuhong Wang, Nathan P. Coussens, Vijay K. Kalaskar et autres

Abstract Significant loss of pigmentation can increase visual disability, skin cancer risk, and psychosocial stress. Tyrosinase (TYR) catalyzes the first and rate-limiting step of melanin synthesis. Inhibitors of TYR are well established and are currently used in clinical settings; however, there is …

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Honoring Professor Andreas Gal

Elias I. Traboulsi, Brian P. Brooks

This issue of the Journal honors one of the Ophthalmic Genetics’ recently retired editors and world-renowned geneticist Andreas Gal. Professor Gal is a distinguished researcher and academic known f...

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Congenital Anomalies of the Optic Nerve

Matthew D. Benson, Elias I. Traboulsi, Brian P. Brooks

Abstract This chapter traces the normal development of the optic nerve throughout gestation before discussing aplasia of the optic nerve, a rare condition in which the optic nerve fails to develop, and optic nerve hypoplasia, a congenital, nonprogressive developmental abnormality characterized by …

Case Report: Association of Ocular Colobomas With a Novel Missense Variant in CDC42 , a Member of the Rho Family of Small GTPases

Diana S. Brightman, Nawaal Shinwari, Aleksey Porollo, Eniolami O. Dosunmu et autres

We present a 2-year-old male with bilateral iris and chorioretinal colobomas, speech delays, and facial and digital anomalies. Trio exome sequencing demonstrated a de novo, novel heterozygous variant, c.379G>A p.Glu127Lys in CDC42, conferring a diagnosis of Takenouchi-Kosaki syndrome. The p.Glu127Lys variant was …

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A zebrafish model of crim1 loss of function has small and misshapen lenses with dysregulated clic4 and fgf1b expression

Tien Le, Stephanie Htun, Manoj K. Pandey, Yihui Sun et autres

Introduction Heterozygous deletions predicting haploinsufficiency for the Cysteine Rich Motor Neuron 1 (CRIM1) gene have been identified in two families with macrophthalmia, colobomatous, with microcornea (MACOM), an autosomal dominant trait. Crim1 encodes a type I transmembrane protein that is expressed at the …

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O03: Hydroxocobalamin (OHCbl) dose intensification can prevent visual deterioration and improve neurological and biochemical outcomes in CBLC deficiency

Charles P. Venditti, Jennifer L. Sloan, Wadih M. Zein, Audrey Thurm et autres

MMACHC-related combined methylmalonic aciduria and homocystinuria also known as cblC deficiency (OMIM 277400) is the most common disorder of intracellular cobalamin (vitamin B12) metabolism. A devastating complications seen universally in those who are homozygous for the common infantile-onset MMACHC variant c.271dupA (p.Arg91LysfsTer14) …

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Systematic phenotype and genotype characterization of Moebius syndrome

Bryn D. Webb, Julie A. Jurgens, Narisu Narisu, Zhongyang Zhang et autres

Purpose: To explore the phenotypic spectrum and genetic etiologies of Moebius Syndrome (MBS), a rare neurological disorder defined by congenital, nonprogressive facial weakness and limitations in ocular abduction. Methods: We applied strict diagnostic criteria and conducted clinical phenotyping of 149 individuals with …

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Variants in NR6A1 cause a novel oculo-vertebral-renal (OVR) syndrome

Uma M Neelathi, Ehsan Ullah, Aman George, Mara I Maftei et autres

Colobomatous microphthalmia is a potentially blinding congenital ocular malformation that can present either in isolation or together with other syndromic features. Despite a strong genetic component to disease, many cases lack a molecular diagnosis. We describe a novel autosomal dominant oculo-vertebral-renal (OVR) …

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Optic Atrophy

Suzie Kim, Grace Shih, Brian P. Brooks

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Hydroxocobalamin dose intensification improves ocular, neurological and biochemical outcomes in CBLC deficiency

Jennifer L. Sloan, Wadih M. Zein, Audrey Thurm, Camryn Hall et autres

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Retina and RPE lipid profile changes linked with ABCA4 associated Stargardt's maculopathy

Mitra Farnoodian, Devika Bose, Francesca Barone, Luke Mathew Nelson et autres

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