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C. Edelson, F. Audren, P. Dureau, G. Caputo; Ocular and Facial Malformations in a Case of Ring 18 Chromosome Mosaicism . Invest. Ophthalmol. Vis. Sci. 2005;46(13):1835.
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Purpose: To describe the ocular and facial malformations in a ring 18 chromosome syndrome compatible with a certain degree of visual development Methods: a one month old male is reported with ring 18 chromosome mosaicism 46XY,r18/ 46 XY. Results: Facial dysmorphism consisted of Pierre Robin syndrome with complete palate cleft, retrognatism, glossoptosis aasociated to a mid facial hypoplasia and microcephaly.Ocular abnormalities included microphtalmia, microcornea, iris hypoplasia in one eye and iris coloboma in the other eye, ectopic lenses and bilateral retinal coloboma encompassing the optic nerve. Axial length was mesured by B scan echography : right eye 15.4 mm, left eye 14.7. ERG and VEP were recorded at day 7, 2 months, 8 months. Brain scan confirmed the absence of brain abnormalities. Conclusions: this rare observation is similar to the cases previously described in the litterature. The relatively mild phenotype could be attributed to the simultaneous presence of normal lineage cells. Brihaye M. Bull Soc Belge Ophtalmol.1969; 696. Yanoff M. Am J Ophthalmol. 1970;391. Amit R in Pediatr Neurol.1988; 301.
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