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A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene.
Invest Ophthalmol Vis Sci. 2000 Nov; 41(12):3925-32.IO

Abstract

PURPOSE

To analyze the RDH5 gene in patients with fundus albipunctatus with and without cone dystrophy and to determine whether the disease is stationary or progressive and whether the cone dystrophy is a part of fundus albipunctatus or a separate disease.

METHODS

Fourteen patients from 12 separate Japanese families with fundus albipunctatus were examined. Six of the patients from 6 families also had a cone dystrophy. Genomic DNA was extracted from leukocytes of the peripheral blood, and exons 2, 3, 4, and 5 of the RDH5 gene were amplified by polymerase chain reaction and were directly sequenced. A complete ophthalmic examination was performed including best-corrected visual acuity, slit-lamp examination, indirect ophthalmoscopy, fundus photography, and electroretinography.

RESULTS

In all the patients, either a homozygous mutation or compound heterozygous mutations in the RDH5 gene were identified. The identified mutations were nucleotide position (nt) 103 G to A (Gly35Ser), nt 319 G to C (Gly107Arg), nt 394 G to A (Val132Met), nt 719 G insertion (frame shift), nt 839 G to A (Arg280His), nt 841 T to C (Tyr281His), and nt 928 C to GAAG (Leu310 to GluVal). All these mutations except the Arg280His were new. The nt 928 C to GAAG mutation was detected in patients with and without cone dystrophy. Cone dystrophy was most frequently seen in patients over 40 years old.

CONCLUSIONS

Fundus albipunctatus either with or without cone dystrophy is caused by mutations of the RDH5 gene. Cone dystrophy is frequently observed in elderly patients with fundus albipunctatus. The conclusion was reached that the mutations of the RDH5 gene caused a progressive cone dystrophy as well as night blindness.

Authors+Show Affiliations

Department of Ophthalmology, Nagoya University School of Medicine, Nagoya, Japan. makonaka@med.nagoya-u.ac.jpNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

11053295

Citation

Nakamura, M, et al. "A High Association With Cone Dystrophy in Fundus Albipunctatus Caused By Mutations of the RDH5 Gene." Investigative Ophthalmology & Visual Science, vol. 41, no. 12, 2000, pp. 3925-32.
Nakamura M, Hotta Y, Tanikawa A, et al. A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene. Invest Ophthalmol Vis Sci. 2000;41(12):3925-32.
Nakamura, M., Hotta, Y., Tanikawa, A., Terasaki, H., & Miyake, Y. (2000). A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene. Investigative Ophthalmology & Visual Science, 41(12), 3925-32.
Nakamura M, et al. A High Association With Cone Dystrophy in Fundus Albipunctatus Caused By Mutations of the RDH5 Gene. Invest Ophthalmol Vis Sci. 2000;41(12):3925-32. PubMed PMID: 11053295.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene. AU - Nakamura,M, AU - Hotta,Y, AU - Tanikawa,A, AU - Terasaki,H, AU - Miyake,Y, PY - 2000/10/29/pubmed PY - 2001/2/28/medline PY - 2000/10/29/entrez SP - 3925 EP - 32 JF - Investigative ophthalmology & visual science JO - Invest Ophthalmol Vis Sci VL - 41 IS - 12 N2 - PURPOSE: To analyze the RDH5 gene in patients with fundus albipunctatus with and without cone dystrophy and to determine whether the disease is stationary or progressive and whether the cone dystrophy is a part of fundus albipunctatus or a separate disease. METHODS: Fourteen patients from 12 separate Japanese families with fundus albipunctatus were examined. Six of the patients from 6 families also had a cone dystrophy. Genomic DNA was extracted from leukocytes of the peripheral blood, and exons 2, 3, 4, and 5 of the RDH5 gene were amplified by polymerase chain reaction and were directly sequenced. A complete ophthalmic examination was performed including best-corrected visual acuity, slit-lamp examination, indirect ophthalmoscopy, fundus photography, and electroretinography. RESULTS: In all the patients, either a homozygous mutation or compound heterozygous mutations in the RDH5 gene were identified. The identified mutations were nucleotide position (nt) 103 G to A (Gly35Ser), nt 319 G to C (Gly107Arg), nt 394 G to A (Val132Met), nt 719 G insertion (frame shift), nt 839 G to A (Arg280His), nt 841 T to C (Tyr281His), and nt 928 C to GAAG (Leu310 to GluVal). All these mutations except the Arg280His were new. The nt 928 C to GAAG mutation was detected in patients with and without cone dystrophy. Cone dystrophy was most frequently seen in patients over 40 years old. CONCLUSIONS: Fundus albipunctatus either with or without cone dystrophy is caused by mutations of the RDH5 gene. Cone dystrophy is frequently observed in elderly patients with fundus albipunctatus. The conclusion was reached that the mutations of the RDH5 gene caused a progressive cone dystrophy as well as night blindness. SN - 0146-0404 UR - https://www.unboundmedicine.com/medline/citation/11053295/A_high_association_with_cone_dystrophy_in_Fundus_albipunctatus_caused_by_mutations_of_the_RDH5_gene_ L2 - https://iovs.arvojournals.org/article.aspx?volume=41&issue=12&page=3925 DB - PRIME DP - Unbound Medicine ER -