Author: Federica Fossataro (Italy)
Co-authors: Luca D'andrea, Gilda Cennamo
To describe the case of a young patient with optic disc coloboma associated with recessive autosomal metaphyseal acroscyphodysplasia (MA) and to analyse the vessel density of radial peripapillary vascular plexus with Optical Coherence Tomography Angiography (OCTA).
Eye Clinic, University of Naples “Federico II”, Naples, Italy
Observational case report.
A 17-year-old man, with a previous diagnosis of MA, was referred for evaluation. The patient showed, at systemic clinical examination, presence of short stature with femoral “cup-shaped” metaphyses causing a general hypotonia, craniofacial abnormalities such as wide nasal bridge, hypertelorism and telecanthus, and a mild psychomotor delay. At ophthalmic evaluation best-corrected visual acuity (BCVA) was 20/20 in both eye (OU). Fundus oculi and multicolor imaging showed an optic disc coloboma in RE. Spectral domain-optical coherence tomography (SD-OCT) displayed normal profile and macular thickness in OU and a congenital optical disc anomaly in RE, which was detected as a hyporeflective area at wide field en-face-OCT. We also measured Ganglion Cell Complex (GCC) and retinal nerve fiber layer (RNFL) which were normal in OU. Going more into detail, the average GCC was 111 µm in RE and 106 µm in the LE; while the average RNFL was 111 µm in RE and 107 µm in LE. A sharp rarefaction of radial peripapillary microvascular network was identifiable at OCTA examination in correspondence of the right optic disc coloboma. Neither structural nor vascular anomalies were present at the left optic disc.
MA is a rare form of metaphyseal dysplasia, firstly described in 1966 and known for chondrodysplasia of the upper and lower limbs bones associated with short stature, craniofacial abnormalities, hypotonia and psychomotor delay. However, the possible ocular involvement was not previously examined. The OCTA analysis of radial peripapillary vessel density showed a marked rarefaction of the vascular texture in correspondence of the optic disc coloboma while GCC and RNFL parameters, measured by SD-OCT, were normal and justifies the patient's excellent visual acuity. Therefore, we reported the first case of MA associated with cavitary optic disc anomaly to highlight possible new aspects concerning this rare skeletal disorder, that could have both bone and vascular involvement.
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