Cornea plana in a family from Pakistan: Case series and literature review on the principles of management.

Cornea plana (CP) is a rare ocular condition existing in two distinct clinical and hereditary forms: a milder, autosomal dominant type I and a more severe, autosomal recessive type II. The condition is more commonly found in Finnish, Saudi, and Czech families. We report three brothers from a consanguineous marriage that presented with complaints of decreased vision of varying degrees. All three of them have blue, thick, and hazy corneas with shallow anterior chamber depths. The additional features of CP type II were seen in the older two brothers including arcus lipoids, ill-demarcated limbus, and an accommodative squint. They were managed by the correction of refractive errors through spectacles and detailed counseling with follow-up visits to look for progressive complications. The management is mainly centered around optically or surgically correcting the developmental anomalies. This is complimented with proper genetic counseling and regular follow-up visits to look for and manage complications. There are, however, novel therapies that can be considered in these patients including corneal transplants or corneal stromal stem cellular therapies.

Ligneous conjunctivitis exacerbated by Pseudomonas aeruginosa - Diagnostic and therapeutic approach.

Ligneous conjunctivitis is a rare disease in which pseudomembranes develop on the mucosal surfaces of the eye. Only a handful of cases have been reported in the past 100 years. Although plasminogen deficiency is largely implicated in the pathogenesis of this condition, infectious agents are also thought to play a role in worsening the disease. Treatment is usually challenging. We present a case of 3-year-old female in whom a multidrug-resistant Pseudomonas aeruginosa was isolated from the culture of the pseudomembranes. To the best of our knowledge, this is the first time P. aeruginosa has been implicated as an exacerbation factor. Furthermore, we have given merit to the triple regimen of corticosteroids, heparin, and cyclosporine as being effective. We also added antibiotics to target the infectious organism.

Waardenburg-Shah syndrome (WS type IV): a rare case from Pakistan.

Waardenburg-Shah syndrome is a rare autosomal recessive [AR] inherited disorder characterized by the presence of Hirschsprung's disease with a high likelihood of aganglionic megacolon, due to which the mortality is high. The management of the condition involves surgical intervention for the removal of the aganglionic segment of the colon. Here, we report a neonate that presented with a white forelock, white eyelashes, iris hypopigmentation, and sensorineural deafness associated with bilious vomiting, refusal to feed, and failure to pass meconium indicating intestinal obstruction.