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In 1965 Oliver and McFarlane1 reported on the association of long eyelashes, pigmentary degeneration of the retina, and mental and growth retardation in an isolated case of a male child. The syndrome was called “congenital trichomegaly.” Only six cases, four children and two adults, have been described since then.2–6 The present report describes the eighth case of Oliver-McFarlane syndrome and documents a 9 year follow up.
A 5½ year old boy presented with progressive visual deterioration in both eyes. Visual problems had become apparent from the second year of age. He was delivered at term without complications weighing 2220 g. Physical examination revealed a weight of 14 kg, a height of 102 cm, and a head circumference of 49 cm. Bone age studies (x ray of the hand) indicated a retardation in bone development with skeletal age of approximately 3 years. His genitals were small, his testes were palpable and descended. The scalp hair was sparse, very fine with a whitish aspect (Fig 1A). His eyelashes were very long and curled upwards (Fig 1B). A neurological examination showed discrete signs of ataxia, coordination was normal, myotonus was regular, and tendon reflexes were not present. IQ testing revealed an IQ of 97. Magnetic resonance imaging (MRI) of the brain disclosed no pathology.
A complete blood cell count and urinanalysis including amino acids screening assay was normal. The urine sediments showed no signs of cytomegalic inclusion cysts. Serological tests for syphilis, hepatitis, German measles, mumps, herpes simplex, cytomegalovirus, mycoplasma, and toxoplasma were unremarkable.
Visual acuity was 20/400 in the right eye and 20/100 in the left at initial presentation. Cycloplegic retinoscopy revealed refractive errors of −7.0 in both eyes. Slit lamp examination was unremarkable, pupils were equal and reacted to direct and consensual stimulation. Intraocular pressures were normal. Fundus examination revealed a marked atrophy of the choriocapillaris. The fundus appeared pale due to depigmentation. There were plaques of pigment distributed in the mid-periphery. No aggregates of pigment were noted in the posterior pole and the macular area (Fig 2A, B).
Nine years later, at the age of 15, the boy was re-examined in our clinic. Best corrected visual acuity had decreased to hand movement at 30 cm in the right eye and 20/200 in the left. Objective refraction using an automated refractor revealed a refractive error of −15.25/−1.25/97° in the right eye and −14.00/−1.75/144° in the left. On fundus examination a progression of the bilateral chorioretinal degeneration was observed (Fig 2C, D). The discs were of normal colour and contour. Although the boy received testosterone therapy he did not develop secondary sexual characteristics according to his age. There was a marked retardation in body height. His gait was ataxic and coordination severely affected. Furthermore, the boy appeared to be mentally retarded. Cytogenetic analysis showed a karyotype without abnormalities.
Oliver-McFarlane syndrome is an extremely rare condition associated with chorioretinal degeneration, dwarfism with growth hormone deficiency, hair abnormalities, and cerebellar dysfunction.7 To our knowledge, this is the eighth case since the first report by Oliver and McFarlane in 1965.1 The chorioretinal degeneration documented in our patient was similar to previous reports.1–6 Neurological findings such as ataxia and coordination problems could be correlated with cerebellar abnormalities during the long term follow up of the patient initially described by Oliver and McFarlane.7 As ataxia progressed during follow up, cerebellar dysfunction as reported by Chang et al7 is very suggestive in our patient, too. However, as the parents refused further imaging of the brain, a definite cerebellar abnormality could not be shown. Peripheral neuropathy as present in our patient, was seen in three previous cases.1,2,6–8
All reported cases appear to be sporadic. As only a very limited number of patients are documented, the genetics of this syndrome remain unclear. There is no known associated chromosomal defect or pattern of inheritance. Delleman and Van Walbeek4 suggested a partial trisomy 13. However, the karyotype of our patient showed no abnormalities.