Results for “Family Characteristics--changes” — Page 10

PubMed1966

Ocular correlates of inborn metabolic defects.

The eye provides unique opportunities for the detection, during life, of deposits of storage substances and other characteristic changes resulting from inborn metabolic defects. The cornea shows the macromolecular polysaccharides of Hurler's disease, the cystine crystals in cystinosis, and the copper deposits of Wilson's disease. The sclera shows characteristic pigmentation in alcaptonuria. The iris shows the lack of pigmentation in various types of albinism. The lens is cataractous in galactosemia and dislocated in homocystinuria. The vitreous is opacified in familial amyloidosis. The retina shows different and characteristic deposits with the diseases of Tay-Sachs, Niemann-Pick, metachromatic leukodystrophy, and Farber's lipogranulomatosis. The retinal veins show pronounced tortuosity with Fabry's disease. There is some evidence that optic neuropathy occurs in glucose-6-phosphate dehydrogenase deficiency. Curiously, few abnormalities in the eye have been described in subjects with the glycogen storage diseases.

Eye Manifestations↗

PubMed1977

[On the clinical picture of Handmann's anomaly of the optic nerve Morning glory syndrome? (author's transl)].

The author reports on the case of a 20-year-old patient who shows the characteristic changes of the central vessels, described by Handmann in 1929 to be a "herditary degeneration - ppresumably congenital and glial - of the optic nerve in which the central vessels are particularly involved". The optic papilla of about normal size is surrounded here by a slightly protruding ridge, which shows separate pigmentary sediments on its edge. The retinal vessels arise out of the depth in increased number on the edge of the papilla. An excavation of the papilla cannot be seen. In its place a whitish-yellow mass surrounded by grayish-pink colored tissue is evident, which obstructs the view into the deeper layers. Kinkler described very similar cases in 1970 and named the characteristic changes "morning glory syndrome". However, in the cases he described, the papillas were apparently greatley enlarged. In addition to the changes in the papillary area and the vessel structure in our case, there are definite changes in the macula (on both sides). Due to the conspicuous distribution of vessels within the papillary region in the father of the patient, similar to those found in Handmann's anomaly of the nerve, the author believes that he can safely assume a developmental disturbance of the origin of the retinal vessels of the papillary area in this case also and that therefore a hereditary component of this developmental disturbance could be described for the first time since Handmann in 1929. In the kin which the author examined, a further apparently familial renal hypoplasia was noted.

Adult↗