ATohfuddin - A family's story

In the prime of his life Syed Muneeruddin, a teacher, became irreversibly blind, due to catastrophic retinal detachment in both eyes. Even surgery didn’t help, as there were complications of glaucoma and atrophy of optic nerves. Erratic and delayed treatment had taken its toll. His children were still toddlers, but family support and a loving wife helped him through those difficult times.

Muneeruddin’s son Tohfuddin was only 19 months old when he was brought to LVPEI in February 2000. The family had noticed that both eyes appeared larger than normal and seemed white in the centre. Tohfuddin’s brother had congenital glaucoma and had gone blind; the family did not want history to be repeated.

A comprehensive eye examination showed that Tohfuddin was at grave risk of numerous eye problems and would need lifelong management. He had congenital cataract and high myopia; he needed to be checked for developmental glaucoma that could lead to irreversible vision loss if not treated on time. He was prescribed spectacles and seemed stable, though he remained under close follow-up in the pediatric glaucoma services of LVPEI.

In January 2006 the boy was using spectacles of the power of (-)23 and (-)24. In August 2006 he suddenly discovered that his vision in the right eye was not very sharp and he had no perceptible vision in the left eye. He had no idea when this happened! The family rushed to LVPEI; their worst fears had come true. Tohfuddin had advanced retinal detachment in both the eyes, which did not seem very recent. The left eye retina had detached a few months ago while the right seemed to be a few weeks old. Skeletal features like depressed bridge of nose and vitreous abnormalities confirmed the diagnosis of Stickler’s Syndrome - a familial disorder that predisposes eyes to retinal detachments and glaucoma.

Retinal detachment surgeries offer best results if operated within a week and it was already late! The doctors wanted to operate immediately, but could not guarantee that surgery would salvage vision. Detachment in children has a low success rate of about 50% and is followed by the problem of glaucoma.

The family was not convinced that surgery would be of any use; after all, Muneeruddin had not gained vision even after multiple surgeries. It was an emotionally charged situation and the family could not decide whether to consent for surgery or not. They preferred surgery in the left eye, in which he was anyway blind. It took a lot of intensive, personalized and informed counseling by the retinal surgeon to answer the family’s doubts, using picture charts and photographs of Tohfuddin’s retina. At last the family gave consent for surgery in the better right eye, where the recent detachment offered surgeons hope of a better outcome.

Surgery in Stickler’s syndrome is technically very challenging even for the most experienced retinal surgeons. In children the vitreous gel in front of the retina is tightly glued to the thinned out detached retina and it requires skilful microsurgery to remove this gel after separating it from the retina. The retina can tear further during this manoeuvre or significant gel may remain - both can result in recurrent retinal detachment and surgical failure.

The surgery was successful and the right eye retina got attached; Tohfuddin’s vision started improving. But glaucoma (high pressure in the eye) crept in within days of surgery. These were painful days for Tohfuddin. He had splitting headaches, vomiting, eye pain and watering so much so that he could not bear to open his eyes. He was in and out of hospital for 15 days as doctors worked to bring the pressure under control before it could irreversibly damage his optic nerves, like in his father’s case. Finally, bold damage control measures averted the crisis.

The surgeons thereafter decided to take up surgery of the complicated detachment of the left eye. The family was more than willing to go through the journey again and the whole cycle of treatment was repeated for the left eye.

Today Tohfuddin and his family are very pleased. He does well in class and can manage boardwork. On his last visit Tohfuddin came to the Retina clinic and tugged at the doctor’s hand with a beautiful smile on his face, “Doctorbai, I have passed my exams and I am off for my holidays!”

Stickler’s syndrome refers to a combination of eye problems like high myopia, vitreous degeneration and lattices degeneration in the retina. In this case, it led to retinal detachment in both eyes; the cause is presumed to be genetic. Vitreoretinal surgery is a high-cost eye surgery and would not be affordable for a person of modest means, such as Muneeruddin. It is only due to the compassion and commitment of LVPEI’s global donor base that children like Tohfuddin can find renewed hope and enthusiasm for life.