Hallermann-Streiff syndrome (also known as oculomandibulofacial syndrome) is a rare syndrome chiefly comprising facial and ocular abnormalities. Cataract and microphthalmos are the most apparent ocular features, but retinal abnormalities may be the primary cause of poor vision.
A 1-week-old girl of European descent was initially seen with bilateral cataracts. She was small for her 35-week gestational age. She exhibited microcephaly with birdlike facies, natal teeth, sparse fine hair, and long hyperextensible fingers consistent with features of Hallermann-Streiff syndrome (Figure 1).
This patient exhibited hypotrichosis, dyscephalia, birdlike facies, and atrophy of skin (especially on the nose), consistent with Hallermann-Streiff syndrome (also known as oculomandibulofacial syndrome).
Ophthalmologic examination revealed bilateral microphthalmia, horizontal corneal diameters of 6 mm, and bilateral visually significant cataracts preventing view of the ocular fundi. Cataract extractions were performed in this patient at 5 and 6 weeks of age. Indirect ophthalmoscopy revealed bilateral macular serous retinal detachments with horizontal retinal folds through the macula, as well as peripapillary and peripheral retinal pigment epithelial mottling (Figure 2). Treatment of uveal effusion syndrome by means of scleral surgery was considered but was declined by the parents.
Color fundus photographs (Retcam, 65° probe; Massie Research Laboratories, Pleasanton, California). A, The right fundus showed a hyperemic and hypervascular optic nerve with engorged retinal vessels. There was extensive subretinal fluid in the posterior pole, inferior retinal folds, fine yellow subretinal deposits in the papulomacular bundle, and subretinal fibrotic bands under the detached retina. Except for the posterior retinal pigment epithelium temporal to the fovea, the retinal pigment epithelium exhibited a mottled appearance. B, The left fundus had a similar appearance with less vascular engorgement and possible pigment epithelial detachment along the superotemporal vascular arcade.
Hallermann-Streiff syndrome was first described by Charles Aubry in 1893.1François2analyzed 22 cases and described 7 essential signs for what he regarded as a new syndrome linked to the various hereditary ectodermal dysplasias. These signs are (1) dyscephalia and birdlike facies, (2) dental abnormalities, (3) proportionate short stature, (4) atrophy of skin (especially on the nose), (5) hypotrichosis, (6) bilateral microphthalmos, and (7) cataract. Most cases of Hallermann-Streiff syndrome are sporadic. Autosomal dominant inheritance has been suggested in some cases.
The retinal changes we observed were strikingly similar to the original drawing of fundus abnormalities in this syndrome by François.3To our knowledge, there is no fundus photograph of a patient with Hallermann-Streiff syndrome in the English-language literature. A fluorescein angiogram (without red-free or color photography) of an exceptional case diagnosed at 11 years of age showed multiple areas of choroidal leakage.4Uveal effusion in Hallermann-Streiff syndrome may not be uncommon if these findings of chorioretinal pigmentary changes, multiple areas of choroidal leakage, and serous retinal detachment represent different manifestations of uveal effusion syndrome in these patients. Indeed, a histopathologic case series of 8 eyes with uveal effusion included a case of Hallermann-Streiff syndrome that demonstrated abnormal scleral collagen.5
Sclerectomy has been advocated for primary uveal effusion syndrome, but its efficacy in congenital uveal effusion in microphthalmic eyes is unknown. Early detection and management of retinal detachment in other patients having Hallermann-Streiff syndrome offer the chance of improved visual function.
Correspondence:Dr Adyanthaya, Zanvyl Krieger Children's Eye Center, The Wilmer Eye Institute, 600 N Wolfe St, Wilmer 233, Baltimore, MD 21287 (firstname.lastname@example.org).
Financial Disclosure:None reported.
Adyanthaya RS, Ying HS, Handa JT, Repka MX. Macular Retinal Detachment in Hallermann-Streiff Syndrome. Arch Ophthalmol. 2008;126(2):271-273. doi:10.1001/archophthalmol.2007.39