Augenbefunde bei Chromosomenkrankheiten

Rieger's syndrome with pericentric inversion of chromosome 6.

“…Hypoplasia of the iris is often seen in trisomy 21 in addition to the characteristic Brushfield spots (Lowe, 1949;Caginaut, 1968). Trisomy 13-15 is notable for the extent of ocular involvement (Patau et al, 1960).…”

Ocular Movement Disturbances in a Family with Trisomy 22 Syndrome

“…Otherwise, the iris coloboma is a frequent eye alternation not bound to pathological karyotype, though it can be inhered [9], It may be present also in many other chromosomal diseases, such as the deletion of the chromosomes 4 and 5 as well as the penta-X and the trisomy 18 syn dromes. Thus, the groups B, C and E may also be involved [3,17]. It occurs most frequently in anomalies of the group D: in D 13-15 [10,21,22]; in D, trisomy syndrome [16], associated with the deletion of one chromosome of this group, [4] and in a ring form, too [13].…”

“…Referring to the incidence rate, the data are varying. For example, C agianut [3] does not mention the squint in the 'cri du chat' syndrome, while Smith [17] reports an incidence rate of 61%. In Down's syndrome cognate with the described squint occurs fre quently, e.g.…”

“…In Down's syndrome cognate with the described squint occurs fre quently, e.g. 44 [3] and 33% [ 17]. Otherwise, there are some well-known 30-35 syndromes but none of them has chromosomal anomalies in which squint may occur.…”

Uveal coloboma and true Klinefelter syndrome.

“…Uveal colobomata are part of the oculo-anal syndrome, which is caused by an extra small submedian chromosome in girls with mongoloid slant of the eyelids, hypertelorism, microphthalmia, anal atresia, recto-vaginal fistulae, pre-auricular fistulae, renal malformations, and mental retardation (Schachenmann et al, 1965;Cagianut, 1968).…”