Atlas of Ophthalmology

Bilateral Chorioretinal Coloboma in Thalidomide Embryopathy (Colour Photography Posterior Segment, SD-OCT)

Retina -> Congenital Abnormalities and Syndromes
Patient: 52 years of age, female, BCVA 0.2 at OD, Lux at OS. Ocular Medical History: bad vision since childhood. General Medica History: pregnant mother was exposed to thalidomide, no limb anomalies, no craniofacial anomalies. Purpose: to present Contergan- associated chorioretinal coloboma. Methods: Colour Photography Posterior Segment, SD-OCT. Findings: Colour Photography Posterior Segment in OD: inferonasal posterior segment coloboma, involving the optic disk, no evidence of retinal detachment. Colour Photography Posterior Segment in OS: inferonasal posterior segment coloboma, involving the optic disk and macula, no evidence of retinal detachment. Mosaic, Colour Photography Posterior Segment, OD and OS: inferonasal posterior segment coloboma, involving the optic disk, in OS involving the macula and optic disk. SD-OCT in OD: in the area between normal retina and coloboma irregular outer plexiform layer, thinned photoreceptor inner and outer segments, decreased thickness of the retina beyond the margin of the coloboma. Mosaic, Colour Photography Posterior Segment, SD-OCT, OD: inferonasal posterior segment coloboma, involving the optic disk, in the area between normal retina and coloboma irregular outer plexiform layer, thinned photoreceptor inner and outer segments, decreased thickness of the retina beyond the margin of the coloboma. Discussion: The Swedish Thalidomide Study (1987–1989) [1-4] described the ophthalmologic findings of thalidomide-exposed embryos: incomitant strabismus, usually of the Duane type, aberrant tearing, coloboma, microphthalmia, and facial nerve palsy. Thalidomide [α-(N-phthalimido)-glutarimide] was synthesized in 1954 under the brand name of Contergan. Thalidomide was a popular treatment for anxiety, insomnia, gastritis, and hyperemesis. Thalidomide is an extremely potent teratogenic drug capable of causing severe systemic malformations to an exposed fetus during the sensitive period. In addition to limb anomalies, craniofacial anomalies, ocular motility dysfunction and structural eye malformations were reported. Approximately 5000 cases of malformed live births occurred worldwide. The survival rate of thalidomide-exposed embryos was estimated to be between 40 and 50%. More than 10 000 pregnancies may have been affected. Thalidomide caused malformations primarily between 20 and 36 days after fertilization. Literature: (1) Miller MT. Thalidomide embryopathy: a model for the study of congenital incomitant horizontal strabismus. Trans Am Ophthalmol Soc. 1991;89:623–674. (2) Strömland K, Miller MT. Thalidomide embryopathy: revisited 27 years later. Acta Ophthalmol. 1993;71:238–245. (3) Miller MT, Strömland K. Teratogen update: thalidomide: a review, with a focus on ocular findings and new potential uses. Teratology. 1999;60:306–321. (4) Miller MT, Strömland KK. What can we learn from the thalidomide experience: an ophthalmologic perspective. Curr Opin Ophthalmol. 2011 Sep;22(5):356-64

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