Background

The journey of Pakistan Foundation Fighting Blindness began after a meeting of Dr. Salma Maqbool, a Medical Practitioner, and Mr. Zaheer Khalid, a Chartered Accountant, which took place sometime in late 1987. In 1974 Dr. Salma Maqbool, was diagnosed with Retinitis Pigmentosa, a genetically transmitted hereditary eye disease leading to blindness. In search of a cure for the disease Dr. Salma traveled to numerous centers of excellence including Dr. Eliot Burson at MIT Boston USA, Dr. Allen Bird at Moorefield Eye Hospital London, Hellen Holtz Eye Hospital Moscow and Dr. D. K. Gahlot at All India Institute of Medical Sciences New Delhi. Meanwhile Mr. Zaheer Khalid was also visiting Ophthalmologists engaged in research on RP in UK and the United States.

DEVELOPMENTAL PHASES OF THE PAKISTAN FOUNDATION FIGHTING BLINDNESS

At the outset, a group of people consisting of the families of Dr. Salma Maqbool and Mr. Zaheer Khalid and Ophthalmologists agreed to form an organization to be called Pakistan Retinitis Pigmentosa Society (PREPS). According to the law of the country, any organization aiming at improving the quality of life of people must be registered as a Non-profit, Non-commercial body. PREPS was registered under the Societies Registration Act, 1860 in March 15th 1988 and also registered under the Voluntary Social Welfare Agencies (Registration & Control) Ordinance 1961 later on. The Objectives of the PREPS as stated in the articles of the organization are:

• To find a cure for retinal degenerative diseases, in collaboration with other national RP organizations worldwide, working within the framework of the International Retinitis Pigmentosa Association IRPA (RI).

• To assist in giving relief to sufferers of Retinitis Pigmentosa and the visually handicapped in any way, which may help them to live with or overcome their handicap.

MEMBERSHIP OF IRPA (RI)

Soon after obtaining a registered status, PREPS endeavored to develop an affiliation with IRPA (RI). IRPA recognized PREPS as the pioneer Organization working on Retinitis Pigmentosa (RP) in Pakistan. After a two years period of negotiations between the two bodies, PREPS was given the status of a full member of IRPA. We have the honour of becoming the first full Asian Member of Retina International.

The Pakistan Foundation Fighting Blindness (PFFB)

In 1995, PREPS was renamed as The Pakistan Foundation Fighting Blindness (PFFB), which continues to implement the objectives and mission of PREPS, and is also extending its services to ameliorate the situation of Visually Impaired persons in the country.

Consolidation of the various organizational systems were carried out with the advice of the Board of Trustees. Simultaneously the research team strategized to collect data about families with at least two to three Visually Impaired persons. Thousands of letters were written to schools for blind children (Government Organizations and Non-Government Organizations), religious Institutions (MADDRISSAS), and the cooperation of the media channels Pakistan Broadcasting Corporation PBC and Pakistan Television PTV and newspapers was obtained. Several PBC Stations launched campaigns in local languages to disseminate information about PFFB and its objectives, asking affected families to make contacts with the Foundation’s research team. Eye Specialists throughout the country were requested to cooperate with the Foundation.

This period of time, during which we at the Foundation waited for responses, was spread over several years. Information trickled in very slowly because approximately 70% of the population of the country is rural based.

RESEARCH WORK

In 1993 Dr. Michael J. Denton, Senior Research Fellow in OTAGO University New Zealand was invited to Islamabad to examine the prospects of collecting Pakistani families with Retinitis Pigmentosa (RP) for gene mapping research. Dr. Michael J. Denton appreciated the size of the PFFB’s data bank of pedigrees with eye diseases and the size of individual pedigrees some of which were highly suitable for gene mapping purposes. The Foundation’s research team located a large recessive RP Pedigrees from near Attock. Blood specimens from this family were sent to Andreas Gal’s lab in Hamburg and the gene responsible for the disease was identified.

A two years project for collection of seven families was funded by Trust Voluntary Organization (TVO) in collaboration with Khan Research Laboratory (KRL). Instead of seven, thirteen families were collected/ documented between 1995-1997.

Encouraged by this preliminary success Dr. Michael J. Denton returned to Islamabad in early 1998 and prepared a submission for research funding, which was submitted to Foundation Fighting Blindness USA (FFB). The submission was entitled “The collection of 10 large recessive RP pedigrees from Pakistan suitable for gene mapping purposes.” The submission proposed that during the year June 1998 – 1999 the PFFB would organize the collection of 10 large RP Pakistani pedigrees suitable for gene mapping purposes and send blood specimens for analysis to Professor Dr. Edwin Stone’s lab in the University of IOWA (USA) and to Dr. Denton’s lab in the University of OTAGO, NZ. The submission was successful and the work described in the proposal was successfully carried out. Because the work went so well and because of the exceptional quality of the pedigrees being collected it was obvious that by December 1998, it would be worthwhile continuing the project for another three years. Consequently in February 1999 Dr. Michael J. Denton prepared a follow up submission to the US Foundation entitled “The collection of 30 large recessive RP pedigrees from Pakistan suitable for gene mapping purposes” which aimed at obtaining another three years funding to continue the project until June 2002. The submission was successful and 30 very impressive RP pedigrees were collected successfully over the next three years from all over Pakistan. Most of the work involved in collecting the pedigrees was carried out by Dr. Michael J. Denton, Captain Maqbool Ahmed Project Director PFFB Medical & Research Team, Professor Dr. Aslam Malik (currently at SHIFA International Islamabad) and Professor Mehtab Sindhi of the Zoology Department of the University of Sindh, Pakistan with logistic help at all times from the PFFB. Altogether the set of 40 families represents one of the best resources available anywhere for elucidating the genetic causes of inherited Retinal Disease in man. Its satisfactory completion is a testimony to the dedication and professionalism of the staff of the PFFB.

Since the completion of the pedigree collection in June 2002, the pedigrees have been subjected to gene mapping studies at the University of OTAGO New Zealand and in the University of IOWA U.S.A. To date the mutation has been determined in 6 of the 40 families collected. The first research reports have already been published. These studies will be continuing over the next few years until the genes responsible for the disease in the majority of the 40 families have been identified.