García GD, Pons CL, Legra NS, Utra PR

Language: Spanish
References: 16
Page: 54-58
PDF size: 1154.32 Kb.

ABSTRACT

Lens ectopy (ectopia lentis) is defined as the displacement or malposition of the crystalline lens caused by the incompetence of the lens supporting tissue. The first case was reported by Berryat in 1749, although Stellwag was the first one to use the term ectopia lentis in 1856, when describing a patient with congenital crystalline lens ectopy. In this paper the etiology and characteristics of different systemic diseases that can occur with dislocation of the crystalline. In this article, three genetic-origin ectopia lentis cases are presented. The three pediatric age patients were affected by different entities and came along to the ophthalmology consultation due to low vision, confirming crystalline luxation. The clinical method, through a general dysmorphic, ophthalmological, physical examination, patient interrogatory and genealogy analysis were applied to reach the final diagnosis. An exhaustive differential diagnosis was carried out and patient no. 1 was diagnosed a Weill Marchesani syndrome, while cases no. 2 and 3 presented Marfan’s syndrome and isolated familiar ectopia lentis respectively. Other causes of ocular and skeletal alterations as homocystinuria, Ehlers-Danlos syndrome, familiar hyperlysinemia, marfanoid syndrome, etc. were also considered and analyzed. Results of multiple investigations that include hundreds of cases show clinical-genetic heterogeneity of ectopia lentis. When medically treating patients with ocular and/or skeletal manifestations it is important to take into account these syndromes in order to establish the adequate diagnosis and follow-up procedure joined to genetic counseling directed to the individual and the family.

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