PMID: 108456Sep 1, 1978

Ocular findings in reno-facial dysplasia (Potter-syndrome) (author's transl)

Klinische Monatsblätter für Augenheilkunde
B Daicker, P Gysin


The clinical and pathological details of a case of reno-facial dysplasia are presented and described. Hyperplasia and lamination of Bowman's membrane, corneal endothelial dystrophy with degenerative changes in the posterior stroma, hypoplasia of the retinal ganglion cell and nerve fibre layers, and severe changes in the retinal and iris blood vessels are believed to be pathognomonic ocular features of this syndrome, in addition to cataract and signs of immaturity. These findings are compared with the few descriptions of the syndrome previously published. The corneal damage is postulated to result indirectly from oligohydramnios which causes chronic compression of the globes and thus endothelial damage due to contact with the spherical cataracts. The pathological changes in the retinal and iris vessels are either genetically determined or the result of chronic hypoxia.

Related Concepts

Multiple Congenital Anomalies
Corneal Diseases
Eye Abnormalities
Disorder of Eye
Neonatal Disorder
Retinal Diseases

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