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Angelica Dipinto, Paolo Fogagnolo, Davide Allegrini, Maurizio Digiuni, Luca Migliavacca, Chiara Olga Pierrottet, Laura Ottobelli, Olga Oneta, Luca Rossetti; Allgrove Syndrome: complex eye involvement and first evaluation by laser scanning confocal microscopy. Invest. Ophthalmol. Vis. Sci. 2013;54(15):4353.
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© ARVO (1962-2015); The Authors (2016-present)
Allgrove Syndrome (AS or triple-A Syndrome) is a rare autosomal recessive disorder, caused by mutations in the AAAS gene on band 12q13. It is characterized by: alacrima, achalasia, adrenal insufficiency and, occasionally, autonomic dysfunction. We report the ophthalmic examination of two affected siblings: a 16 years old female (HH) and a 20 years old male (HI).
HH and HI underwent: complete ophthalmic examination, visual evoked responses (VER), electroretinogram (ERG), optical coherence tomography (OCT) of the optic nerve head and retina, Heidelberg retina tomograph II (HRT II) of the optic disc. We examined HI’s cornea and Meibomian Glands (MGs) by laser scanning confocal microscopy (LSCM) HRT II Corneal Rostock Module. We also performed corneal LSCM on 8 age-matched control subjects.
HH’s slit-lamp examination revealed a superficial keratopathy in both eyes (OU). Schirmer I test was 0 mm in OU. VER showed a mild bilateral sofference. Optic disc HRT was normal. OCT showed a decrease of retinal nerve fiber layer thickness (RNFL) temporally in OU. HI had corneal inferior conjunctivalization and superficial punctate keratopathy. Schirmer test was 0 mm in the right eye (OD) and 2 mm in the left eye (OS). VER revealed a mild left sofference. Inferior and temporal RNFL thinning was shown by OCT, OS worse than OD, whereas HRT was borderline in OU. Both HH and HI showed a red-green color deficiency, normal OCT macula and ERG. HI was also investigated by LSCM. Nerve fibers’ number per frame was reduced in HI (3.5±0.7) compared with controls (6.9±0.6). HI showed an important infiltration of Langerhans cells beneath the epithelium, absent in controls. LSCM of HI’s MGs showed a density of 101.56±5.98 glands per square millimeter and a diameter of 62.14±20.59 micrometers. MGs were characterized by: light gray color secretions, high presence of punctate reflecting elements in the interstice and inhomogeneous appearance of acinar walls.
To the best of our knowledge, this is the most accurate description of ocular involvement in AS, a rare disease associated with complex, and only partially understood, ophthalmic findings.
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