PURPOSE: To report a case of Avellino corneal dystrophy (ACD) in a patient of Indian origin treated with femtosecond-assisted lamellar keratoplasty (FALK). METHODS: A 6-year-old male patient presented with severe photophobia with decreased vision for 2 months. A clinical diagnosis of Avellino dystrophy was made after complete examination under anesthesia and FALK was performed. RESULTS: The postoperative period was uneventful with good symptomatic improvement and graft clarity. Histopathological study with special staining, namely Masson trichrome and Congo red stain, of the patient's corneal button showed features of both granular and lattice lesions suggestive of ACD. Genetic analysis showed absence of R124H mutation in BIGH3 gene. No recurrence or exacerbation was noted at 19-month follow-up. CONCLUSIONS: To our knowledge, this is the first case report of clinical, histopathological, microscopic features of ACD in young patient of Indian origin with absence of BIGH3 gene treated with FALK with IntraLase Femtosecond Laser for donor and recipient cuts.
PURPOSE: To report a case of Avellino corneal dystrophy (ACD) in a patient of Indian origin treated with femtosecond-assisted lamellar keratoplasty (FALK). METHODS: A 6-year-old male patient presented with severe photophobia with decreased vision for 2 months. A clinical diagnosis of Avellino dystrophy was made after complete examination under anesthesia and FALK was performed. RESULTS: The postoperative period was uneventful with good symptomatic improvement and graft clarity. Histopathological study with special staining, namely Masson trichrome and Congo red stain, of the patient's corneal button showed features of both granular and lattice lesions suggestive of ACD. Genetic analysis showed absence of R124H mutation in BIGH3 gene. No recurrence or exacerbation was noted at 19-month follow-up. CONCLUSIONS: To our knowledge, this is the first case report of clinical, histopathological, microscopic features of ACD in young patient of Indian origin with absence of BIGH3 gene treated with FALK with IntraLase Femtosecond Laser for donor and recipient cuts.
Authors: Simone Alex Bagaglia; Franco Passani; Giovanni William Oliverio; Leandro Inferrera; Feliciana Menna; Alessandro Meduri; Cosimo Mazzotta Journal: Int J Environ Res Public Health Date: 2021-03-26 Impact factor: 3.390