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 language | English |
|---|---|
| Pages (from-to) | 121-124 |
| Number of pages | 4 |
| Journal | Journal of Japanese Ophthalmological Society |
| Volume | 104 |
| Issue number | 2 |
| Publication status | Published - 2000 |
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All Science Journal Classification (ASJC) codes
- Ophthalmology
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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 journal › Article
}
TY - JOUR
T1 - A case of ring 14 chromosome with ocular manifestations
AU - Hisatomi, Toshio
AU - Kira, Ryutaro
AU - Sakamoto, Taiji
AU - Inomata, Hajime
PY - 2000
Y1 - 2000
N2 - 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.
AB - 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.
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M3 - Article
C2 - 10714162
AN - SCOPUS:0034132959
VL - 104
SP - 121
EP - 124
JO - Journal of Japanese Ophthalmological Society
JF - Journal of Japanese Ophthalmological Society
SN - 0029-0203
IS - 2
ER -