Surgical treatment of a rare case of bilateral ptosis due to localized ocular amyloidosis

We describe a rare case of a 31-year old woman with bilateral ptosis due to localized amyloidosis. She referred a nine-year history of ptosis and surgical treatment with frontalis suspension three years previously. Following complete ophthalmological examination and evaluation of the ptosis we carried out tarsal and fornix biopsy, which revealed accumulation of a weakly eosinophilic amyloid positive substance. We performed surgical correction using the levator aponeurosis–Müller’s muscle complex re-adaptation technique and amyloid substance debulking in all the palpebral layers in the left eye. The material obtained was stained with hematoxylin–eosin, Congo Red, PAS and alpha-actin, which confirmed amyloid deposition. Successively, the right eye was operated in the same manner and entropion was managed by dissection and removal of amyloid from subconjunctival layers. Five years following surgery, the corrective procedure for ptosis was still effective. Surgical treatment of ptosis is very complex and requires precise indications. Appropriate management depends on the etiopathogenesis, accurate diagnosis, and clinical findings

Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management

Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of sporadic cases. Childhood glaucoma is classified in primary and secondary congenital glaucoma, further divided as glaucoma arising in dysgenesis associated with neural crest anomalies, phakomatoses, metabolic disorders, mitotic diseases, congenital disorders, and acquired conditions. Neural crest alterations lead to the wide spectrum of iridocorneal trabeculodysgenesis. Systemic diseases associated with childhood glaucoma include the heterogenous group of phakomatoses where glaucoma is frequently encountered in the Sturge-Weber syndrome and its variants, in phakomatosis pigmentovascularis associated with oculodermal melanocytosis, and more rarely in neurofibromatosis type 1. Childhood glaucoma is also described in systemic disorders of mitotic and metabolic activity. Acquired secondary glaucoma has been associated with uveitis, trauma, drugs, and neoplastic diseases. A database research revealed reports of childhood glaucoma in rare diseases, which do not include glaucoma in their manifestation. These are otopalatodigital syndrome, complete androgen insensitivity, pseudotrisomy 13, Brachmann-de Lange syndrome, acrofrontofacionasal dysostosis, caudal regression syndrome, and Wolf-Hirschhorn syndrome

Surgical management of concomitant ptosis and cicatricial entropion in a patient with ocular cicatricial pemphigoid

Abstract Purpose: To report on the surgical management of concurrent ptosis and entropion in a patient with cicatricial pemphigoid. Case report: A 71 year-old patient presented with vision impairment and pain in the right eye due to entropion associated with trichiasis and mild-ptosis. He had a history of ocular cicatricial pemphigoid together with a lung cancer of the apex of the right lung with pleural involvement. There was a history of central retinal vein occlusion of the left eye. Clinical and orthoptic examination was conducted and a decision was made to perform surgical correction of the entropion followed by correction of ptosis avoiding the conjunctival approach. During surgery global alteration and anomalous anatomical relationships of the eyelid tissues was observed. Conclusion: In this patient affected by cicatricial ocular pemphigoid, surgery of both entropion and ptosis avoiding the conjunctiva approach, associated with good medical management of the immune reaction, and resulted in good esthetic and functional outcome without undesirable complications