A case of ring 14 chromosome with ocular manifestations

Toshio Hisatomi, Ryutaro Kira, Taiji Sakamoto, Hajime Inomata

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Background : Ring 14 chromosome has been reported to be assoicated with mental retardation, craniofacial dysmorphology, and epilepsy. Flecked and/or pigmented retina are also ocular manifestations of this disease. Case : A 29-year-old female suffered from seizures and developmental and growth delay. Narrow palpebral fissura, broad flat nose, large auricula, high arched palate, and short neck were present. Chromosomal analysis disclosed her ring 14 chromosome (p 11. 2 q 32. 3). Ophthalmologically, cortical cataract, refractive error (right-3. 00 D, left-1. 50 D), and yellow-white flecks in the macula and yellow-white spots in the mid-peripheral retina in both eyes were present. Conclusions : To date, ophthalmic changes consomitent to a breakpoint at 14 q 32. 2 have been reported. We report a case of ring 14 chromosome with breakpoint at 14 q 32. 3 which showed yellow flecks in the macula and mid-peripheral retina.

Original languageEnglish
Pages (from-to)121-124
Number of pages4
JournalJournal of Japanese Ophthalmological Society
Volume104
Issue number2
Publication statusPublished - 2000

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Eye Manifestations
Retina
Chromosome Breakpoints
N,N-dimethyl-3,3-diphenyl-1-methylallylamine
Chromosomes, Human, Pair 11
Refractive Errors
Eye Diseases
Palate
Dental Caries
Eyelids
Nose
Intellectual Disability
Cataract
Epilepsy
Seizures
Neck
Growth
Ring Chromosome 14 Syndrome
Flecks

All Science Journal Classification (ASJC) codes

  • Ophthalmology

Cite this

Hisatomi, T., Kira, R., Sakamoto, T., & Inomata, H. (2000). A case of ring 14 chromosome with ocular manifestations. Journal of Japanese Ophthalmological Society, 104(2), 121-124.

A case of ring 14 chromosome with ocular manifestations. / Hisatomi, Toshio; Kira, Ryutaro; Sakamoto, Taiji; Inomata, Hajime.

In: Journal of Japanese Ophthalmological Society, Vol. 104, No. 2, 2000, p. 121-124.

Research output: Contribution to journalArticle

Hisatomi, T, Kira, R, Sakamoto, T & Inomata, H 2000, 'A case of ring 14 chromosome with ocular manifestations', Journal of Japanese Ophthalmological Society, vol. 104, no. 2, pp. 121-124.
Hisatomi T, Kira R, Sakamoto T, Inomata H. A case of ring 14 chromosome with ocular manifestations. Journal of Japanese Ophthalmological Society. 2000;104(2):121-124.
Hisatomi, Toshio ; Kira, Ryutaro ; Sakamoto, Taiji ; Inomata, Hajime. / A case of ring 14 chromosome with ocular manifestations. In: Journal of Japanese Ophthalmological Society. 2000 ; Vol. 104, No. 2. pp. 121-124.
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