Retinitis-Pigmentosa Essay

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RESULTS OF PEDIGREE ANALYSIS PEDIGREE 1 PEDIGREE ANALYSIS The pedigree of family 1 confirms that the mode of inheritance of retinitis Pigmentosa of the 21 year old male proband born to phenotypically normal cousins is autosomal recessive as they exhibit no symptoms of degenerating vision or visual impairment hence the mode of inheritance is not X linked (as all males would be affected) or autosomal dominant (where 50% progeny would be affected). Hence it can be concluded that the mode of inheritance is autosomal recessive. The age of onset of RP in the individual was 19 years, clinically diagnosed. The manifestation was color blindness leading to complete visual impairment. Co morbidities in this Arain family are dyslipidemia leading to myocardial infarction in father and grandmother. PEDIGREE 2 PEDIGREE ANALSIS The analysis of the pedigree shows that the 24 year old male proband and his siblings are born to phenotypically normal cousins. As they exhibit no symptoms of degenerating vision or visual impairment hence the mode of inheritance is not X linked (as all males would be affected) or autosomal dominant (where 50% progeny would be affected). Hence it can be concluded that the mode of inheritance is autosomal recessive. The age of onset of RP in the individual was 19 years, clinically diagnosed. The manifestation was tunneled vision leading to complete visual impairment. Co morbidities in this Jutt family are hypertension and diabetes. PEDIGREE 3 PEDIGREE ANALYSIS According to the pedigree the mode of inheritance of RP in this family is autosomal recessive since the parents of the 50 year old male proband are phenotypically normal cousins and they show no symptoms of degenerating vision or visual impairment hence the mode of inheritance is not X linked (as all males would be affected) or autosomal dominant (where 50% progeny would be

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