with or without scleral buckling [19, 69]. Ablation of abnormal vessels is thus facilitated and is more likely to be effective.

Surgical treatment of children with advanced Coats’ disease is directed more toward preservation of ocular comfort and cosmesis. Macular damage is often significant by the late stages of the disease, and visual potential is severely limited. Silodor et al. used intraocular infusion, drainage of subretinal fluid, and cryotherapy in seven blind eyes and avoided enucleation in all seven. Six comparable eyes, left untreated, all eventually necessitated enucleation [70]. Vitrectomy, retinectomy, and intraocular diathermy have been used to salvage eyes with exudative and tractional retinal detachments, and may even provide short-term maintenance of modest vision [69, 71].

10.9  Systemic Associations

The overwhelming majority of children with Coats’ disease are otherwise healthy. Previous toxoplasmosis has been reported in a few cases [14, 25]; epilepsy, in one case [13]. Reese noted the rare occurrence of telangiectasias elsewhere in the body and suggested a relation to Osler–Weber–Rendu disease [5].

Retinal changes typical of incipient Coats’ disease are seen commonly in patients with the familial syndrome of facioscapulohumeral muscular dystrophy [43, 72]. In a cohort of 64 patients with this disorder, retinal telangiectasias were documented angiographically in 48 (75%) [73]. There are isolated reports of Coats’ disease in patients with trisomy 8 mosaic [20]; Turner syndrome [74]; frontoparietal circumscribed scleroderma [75]; mandibulo-facial dysostosis (Hallermann–Streiff syndrome) [76]; familial renal-retinal dystrophy (Senior– Loken syndrome) [77]; Cornelia de Lange syndrome [78]; ichthyosis hytrix (epidermal nevus syndrome) [79]; bone marrow hypoplasia [80]; and vascular anomalies of the central nervous system [81].

10.10  Social and Family Impact

Following the diagnosis of Coats’ disease in a child, the parents must be prepared for the sometimes inexorable course of the disease and the need for frequent

monitoring and repeated treatment, usually requiring general anesthesia. While most children with Coats’ disease are otherwise healthy and live normal and productive lives, bilateral ocular involvement may relegate a child to lifelong blindness. In these cases, children and siblings should be encouraged to learn the Braille alphabet. Children may struggle with the pain of neovascular glaucoma or the self-consciousness of a phthisical eye. If enucleation is contemplated, the physician must be sensitive of the emotional trauma of the procedure and must strive for an esthetic surgical result. Children must be reminded of the importance of eye protection and the necessity of regular eye examinations for the rest of their lives.

10.11  Future Treatment

Improvements in therapy and prognosis for children with Coats’ disease are predicated foremost on a better understanding of its pathogenesis. In the absence of an identifiable genetic defect, preparation of an animal model is challenging. It is hoped that knowledge gained from study of other vascular retinopathies such as retinal angiomatosis or diabetic retinopathy may be applicable to Coats’ disease. Pharmacological modulation of vascular permeability, vasculogenesis, and lipid metabolism may hold promise as therapies for this debilitating disease.

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Abbreviations

J.M. Sullivan (*)

Department of Ophthalmology, University at Buffalo, State University of New York, Buffalo, NY, USA e-mail: jackmsullivanmdphd@yahoo.com

D.G. Birch

Department of Ophthalmology, Retina Foundation of the Southwest, UT Southwestern Medical Center, Dallas, TX, USA

R. Spencer

Department of Ophthalmology, UT Southwestern Medical

Center, Dallas, TX, USA

11.1  Diagnosis and Clinical Assessment

of Pediatric Macular Degenerations

Traditionally, hereditary macular degenerations have been distinguished from age-related forms of macular degeneration that typically begin after the age of 50. We describe here three different juvenile hereditary