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T. Fujimaki, M. Himi, K. Fujiki, T. Takizawa, T. Yokoyama, A. Murakami; A Case of Oculo Dento Digital Dysplasia Syndrome With Novel GJA1 Gene Mutation. Invest. Ophthalmol. Vis. Sci. 2007;48(13):1326. doi: https://doi.org/.
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Oculo Dento Digital Dysplasia Syndrome (ODDD) is a syndrome which was established by Merer-Schwickerath et al. in 1957 and is characterized by ocular anomalies such as microphthalmia anterior chamber displasia, small nose with hypoplastic alae nasi, and enamel defects finger and toe syndactyly. There are many reports on sporadic cases, but there are also some reports on autosomal dominant cases. We investigated the GJA1 gene mutations in a psychological visual disturbance patient who were suspected of being ODDD.
A female aged nine years visited our hospital complaining of visual disturbance (first-visit visual acuity OD: 0.2 (0.3); OS: 0.2 (0.5)). Cycloplegic refraction was OD +1.25D and OS +1.50D. Microcornea, microphthalmia lid fissure stenosis and persistent papillary membrane were monitored, and she had a small nose with hypoplastic alae nasi. She had undergone syndactyly operation at the age of two and had bending fingers in both hands. A tubular visual field was confirmed by perimetry. Psychological visual disturbance was suspected, and time-course changes were monitored. Visual acuity improved to OD 0.5 (1.2) and OS 0.5 (1.5). Genomic DNA was extracted from leukocytes of peripheral blood of the patient in accordance with standard procedures after obtaining of informed consent. We amplified the GJA1 exon 2 from genomic DNA of the patients using a PCR method, and the dye terminator method was used for sequencing.
S5C (AGC → TGC) in exon 2 in GJA1 gene was found. This mutation was not observed in 20 subjects in the control group in the NCBI SNP database and appeared to be a novel mutation associated with ODDD.
We detected a GJA1 novel mutation for the first time in a Japanese ODDD patient. Like the patient above, even patients with tissue diseases which may cause visual disturbance such as microcornea, microphthalmia and hyperopia may have psychological visual disturbance. There are some reports on glaucoma complications associated with ODDD. Careful long-term monitoring and treatment are also necessary.
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