[Macular combined malformation (hamartoma) of the retina and retinal pigment epithelium].

BACKGROUND

Combined malformations (hamartomas) of the retina and the retinal pigment epithelium are extremely rare. Confusion of these pigmented lesions with choroidal melanomas or other malignancies is possible.

MATERIALS AND

METHODS

We present the cases of a 7-year-old girl who developed accommodative convergent strabism and the case of an 8-year-old boy with deterioration of visual acuity in the left eye. On examination the anterior segments were normal in both cases. Funduscopically both eyes showed a centrally located large, partly pigmented and slightly prominent tumor, which extended fanlike into the normal-appearing retina. Both lesions were partly obscured by grayish-white, semitranslucent and thickened retina with retinal folds and overlying tortuous vessels. On follow-up examination one lesion seemed to be slightly more pigmented whereas the other lesion remained unchanged.

RESULTS AND DISCUSSION: Combined malformations of the retina and the retinal pigment epithelium were originally described as clinical entities (hamartomas) by Gass in 1973. A few additional cases were subsequently published by McLean in 1976, by Laqua and Wessing in 1979 and some other authors. Laqua and Wessing were the first to give a report of a histologic study in one case with a macular lesion that showed two distinguishable components. The outer pigmented portion consisted of hypertrophied retinal pigment epithelium; the inner unpigmented portion consisted of a malformed and thickened retina which, however, showed normal layering. The clinical characteristics are usually diagnostic. Fluorescein angiography is helpful in establishing the diagnosis and ruling out differential diagnoses.

CONCLUSION

Although long-term follow-up did not show evidence of growth patients with combined malformation of the retina and retinal pigment epithelium should be followed up regularly.