Khairallah M, Kamoun N, Mikati R, Messaoud R, Chachia N
Service d'Ophtalmologie, C.H.U. Fattouma Bourguiba, Monastir, Tunisie.
J Fr Ophtalmol. 1994;17(4):242-51.
The authors report the observation of a family with different dystrophies of the retinal pigment epithelium: a macroreticular dystrophy (1 case), a butterfly-shaped dystrophy (1 case), a butterfly-shaped or a macroreticular dystrophy associated with vitelliform lesion (3 cases), and hard drusen (2 cases). The association of pattern dystrophies and vitelliform lesions was described in some families or subjects in previous reports. The different fundoscopic aspects could constitute the same autosomal dominant dystrophy with variable expressivity. The presence, in this family, of two cases of probably inherited drusen could reflect the similarity of this disease with the other autosomal dominant dystrophies of the retinal pigment epithelium. Further biological studies should be performed to identify the pathogenesis of these diseases and will allow clearer classification.
大网状营养不良（1例）、蝶形营养不良（1例）、与卵黄样病变相关的蝶形或大网状营养不良（3例）以及硬性玻璃膜疣（2例）。既往报告中曾在一些家系或个体中描述过图案性营养不良与卵黄样病变的关联。不同的眼底表现可能构成具有可变表达性的同一种常染色体显性营养不良。在这个家系中存在两例可能遗传的玻璃膜疣，这可能反映了该疾病与其他视网膜色素上皮常染色体显性营养不良的相似性。应进行进一步的生物学研究以确定这些疾病的发病机制，并将有助于更清晰的分类。
