Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene

Edwin M Stone; Xunda Luo; Elise Héon; Byron L Lam; Richard G Weleber; Jennifer A Halder; Louisa M Affatigato; Jacqueline B Goldberg; Alexander Sumaroka; Sharon B Schwartz; Artur V Cideciyan; Samuel G Jacobson

doi:10.1167/iovs.11-8527

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Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene

Journal article

Open access

Peer reviewed

Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene

Edwin M Stone, Xunda Luo, Elise Héon, Byron L Lam, Richard G Weleber, Jennifer A Halder, Louisa M Affatigato, Jacqueline B Goldberg, Alexander Sumaroka, Sharon B Schwartz, …

Investigative ophthalmology & visual science, Vol.52(13), pp.9665-9673

12/28/2011

DOI: 10.1167/iovs.11-8527

PMCID: PMC3341124

PMID: 22110072

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Abstract

To determine the disease expression in autosomal recessive (ar) retinitis pigmentosa (RP) caused by mutations in the MAK (male germ cell-associated kinase) gene. Patients with RP and MAK gene mutations (n = 24; age, 32-77 years at first visit) were studied by ocular examination, perimetry, and optical coherence tomography (OCT). All but one MAK patient were homozygous for an identical truncating mutation in exon 9 and had Ashkenazi Jewish heritage. The carrier frequency of this mutation among 1207 unrelated Ashkenazi control subjects was 1 in 55, making it the most common cause of heritable retinal disease in this population and MAK-associated RP the sixth most common Mendelian disease overall in this group. Visual acuities could be normal into the eighth decade of life. Kinetic fields showed early loss in the superior-temporal quadrant. With more advanced disease, superior and midperipheral function was lost, but the nasal field remained. Only a central island was present at late stages. Pigmentary retinopathy was less prominent in the superior nasal quadrant. Rod-mediated vision was abnormal but detectable in the residual field; all patients had rod>cone dysfunction. Photoreceptor layer thickness was normal centrally but decreased with eccentricity. At the stages studied, there was no evidence of photoreceptor ciliary elongation. The patterns of disease expression in the MAK form of arRP showed some resemblance to patterns described in autosomal dominant RP, especially the form caused by RP1 mutations. The similarity in phenotypes is of interest, considering that there is experimental evidence of interaction between Mak and RP1 in the photoreceptor cilium.

Tomography, Optical Coherence

Humans

Middle Aged

Protein-Serine-Threonine Kinases - genetics

Retinitis Pigmentosa - genetics

Exons - genetics

Mutation - genetics

Genes, Recessive

Adult

Aged

Visual Field Tests

Eye Proteins - genetics

Photoreceptor Cells, Vertebrate - pathology

Retinitis Pigmentosa - physiopathology

Visual Acuity - physiology

Details

Title: Subtitle: Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene
Creators: Edwin M Stone - Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA. edwin-stone@uiowa.edu
Xunda Luo
Elise Héon
Byron L Lam
Richard G Weleber
Jennifer A Halder
Louisa M Affatigato
Jacqueline B Goldberg - University of Pennsylvania
Alexander Sumaroka
Sharon B Schwartz
Artur V Cideciyan
Samuel G Jacobson
Resource Type: Journal article
Publication Details: Investigative ophthalmology & visual science, Vol.52(13), pp.9665-9673
DOI: 10.1167/iovs.11-8527
PMID: 22110072
PMCID: PMC3341124
NLM abbreviation: Invest Ophthalmol Vis Sci
ISSN: 0146-0404
eISSN: 1552-5783
Publisher: United States
Grant note: R01EY016822 / NEI NIH HHS R01 EY016822 / NEI NIH HHS Howard Hughes Medical Institute
Language: English
Date published: 12/28/2011
Academic Unit: The University of Iowa Institute for Vision Research; Iowa Neuroscience Institute; Ophthalmology and Visual Sciences
Record Identifier: 9983980398902771

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