Ординатура / Офтальмология / Английские материалы / Handbook of Pediatric Eye and Systemic Disease_Wright, Spiegel, Thompson_2006

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family. Molecules presumably transported by ABCC6 may be essential for extracellular matrix deposition or turnover of connective tissue at specific sites in the body.15 Given the high expression of ABCC6 in liver and kidney, ABCC6 substrates may be transported into the blood. A deficiency of specific ABCC6 substrates may affect a range of connective tissue sites throughout the body and specifically the elastic fiber assembly.

A number of mutations that support autosomal recessive inheritance have been found, and an R114X mutation was found in families segregating autosomal dominant and autosomal recessive PXE. Initial debates as to number of varieties and modes of inheritance were caused by the variability of disease expression within families and among patient groups; some have predominant ocular disease with mild cutaneous findings and vice versa. Based on a study of 180 cases, Pope213–215 postulated the existence of two dominant and two recessive varieties with 47% of cases having recessive disease. Neldner193 found that 97% of patients probably had recessive disease. An additional recessive variant with severe ocular findings and relatively mild cutaneous and vascular changes may exist in Afrikaners and Belgian patients.61,293 The classic variety involving skin, blood vessels, and the eye corresponds to type I recessive in Pope’s classification. Histopathological findings may allow preclinical diagnosis in familial instances.108

Angioid (blood vessel-like) streaks occur in 85% of patients with PXE, and 70% of these patients experience subsequent visual loss.46,96 The streaks represent linear discontinuities in Bruch’s membrane starting at the optic nerve head and radiating toward the equator of the globe. The elastic layer of Bruch’s membrane is abnormal and calcific; this leads to cracks involving the full thickness of the membrane.37 Fibrovascular proliferation from the choroid and through the crack may lead to serous or hemorrhagic detachment of the retinal pigment epithelium. Angioid streaks may remain stationary or may progress intermittently in number, length, or width. Visual symptoms result from retinal hemorrhages, extension of angioid streaks into the macula, choroidal atrophy or sclerosis, and retinal pigment epithelial atrophy. Angioid streaks are best visualized using fluorescein angiography.119,236 Other ocular findings in PXE include a peau d’orange appearance to the fundus and scattered punchedout chorioretinal lesions in the fundus periphery (Fig. 5-1).37,255 Secretan et al.245 analyzed the retinal and choroidal vascular abnormalities in eyes with angioid streaks (AS) associated with

FIGURE 5-1. Fundus of patient with pseudoxanthoma elasticum. Note peau d’orange appearance and optic nerve head drusen.

PXE. Color photographs and fluorescein angiograms of 54 eyes of 27 consecutive patients with AS and PXE were examined retrospectively. Four (7%) of the 54 eyes had a major vascular abnormality at the level of the disc; this took the form of a large vascular loop corresponding to an arteriovenous communication between retina and choroid in 3 eyes (6%) and an anastomosis between two retinal arteries in 1 eye (2%).

The management of patients with PXE consists of treatment of vascular complications and cardiac valvular and myopathic lesions, and, when possible, photocoagulation of choroidal neovascularization that may complicate the AS. Because testing for the genetic mutation(s) responsible for PXE is not routine, genetic counseling must be done with caution. Sherer et al.254 described four families in which one or more children were diagnosed with PXE. Detailed examination of the parents was carried out, including skin biopsy and ophthalmologic examination. In three of the four families, one parent had limited phenotypic expression, such as ocular findings without skin lesions or very mild skin lesions with no ocular findings. In the other family, one parent had very mild skin and ocular disease. All four affected parents had diagnostic skin biopsy findings. In none of the four families was the inheritance pattern clear cut. Although the inheritance pattern of PXE has been debated, clinically significant stigmata of PXE, which are not always readily

apparent, can occur in successive generations. Therefore, all first-degree relatives of affected patients should undergo a full dermatological examination as well as a funduscopic examination. If even mild typical skin or eye findings are present, then skin biopsy should be performed.

Ehlers–Danlos Syndrome

There are several types of Ehlers–Danlos syndrome (Table 5-1). Characteristic joint hyperextensibility and skin laxity are demonstrated in Figure 5-2. Ehlers–Danlos syndrome type VI (lysyl hydroxylase deficiency) is the form of most interest to ophthalmologists because of the potential for rupture of the globe or retinal detachment following minor trauma. Judisch et al.131 observed spontaneous rupture of the globe in the absence of lysyl hydroxylase deficiency. Their patient probably had the syndrome of macrocephaly–Ehlers–Danlos VI phenotype reported later by Cadle et al. in 1985.29 Other similar patients have been reported since and have had normal levels of lysyl hydroxylase.238,313 Zlotogora et al.313 divided patients with the socalled brittle cornea syndrome into two groups. The first group comprises Tunisian Jewish patients with red hair and ocular fragility, and the second larger group is composed of patients of

TABLE 5-1. Clinical Features of Ehlers–Danlos Syndrome.

Source: Based on information from Online Mendelian Inheritance in Man, OMIM (TM). McKusick–Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), 2000. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/

A

B

FIGURE 5-2A,B. Hyperextensible joint (A) and elastic skin (B) in a patient with Ehlers–Danlos syndrome.

different ethnic backgrounds who are not redheaded. The locus for this syndrome may be closely linked for the gene(s) responsible for hair color. Ocular findings that are occur in some patients with Ehlers–Danlos syndrome (EDS) include myopia, microcornea, keratoconus, and occasionally retinal detachment and glaucoma. Their prevalence, however appears to be low or the same as the general population.177