[Table/Fig-1]:
Author and year | Institution | Age | Clinical features | Unusual features | Genetic study | |
---|---|---|---|---|---|---|
Eye involvement |
Renal involvement |
|||||
HK Aggarwal et al., [11] 2013 | Pt.B.D.Sharma Institute of Health Sciences Rohtak | 19-years-old male | Retinitis pigmentosa | Renal failure, bilateral kidneys revealed increased echogenicity with a loss of corticomedullary differentiation. | Short metacarpals and madarosis (loss of eyebrows) | Not done |
NP Singh et al., [12] 1998 | Maulana Azad Medical College and Associated Lok Nayak Hospital New Delhi | 35-year-old male | Retinitis pigmentosa Elder sister Retinitis pigmentosa | Multiple corticomedullary cysts and medullary cysts in both kidneys Elder sister Renal failure | Short status, kyphoscoliosis, small hands (short metacarpals) and cutis laxa (similar findings in sister) | Not done |
S Giridhar et al., [13] 2006 | Institute of Child Health and Hospital Chennai | Twins 11year females | Retinitis pigmentosa | Shrunken kidneys, grade III renal parenchymal disease, b/l cortico-medullary cysts | Dysmorphic features (high forehead, depressed nasal bridge, micrognathia, brachydactyly, clinodactyly, sandle gap) | Not done |
R Janardhanan et al., [14] 1997 | Medical college and hospital Trivandrum | 13 year female Brother 15 year | Retinitis pigmentosa Brother: Retinitis pigmentosa | B/l contracted kidneys (2.3 5.3 cm) Hyperechoic; CMD lost; 3*5.1 cm; Hyperechoic CMD lost Brother: B/l renal parenchymal disease | None | Not done |
R Hemachandra [15] 2014 | Mahatma Gandhi Medical College and Research Institute, Puducherry | Case I: 12 year female Case II: 16 year male | Case I: Retinal dystrophy. Case II: Retinitis pigmentosa | Case I: Bilateral small kidneys with increased echogenecity and few small cysts in both the kidneys. Case II: Bilaterally echogeinc kidneys with loss of corticomedullary differentiation. | None | Not done |
Present case 2016 | G.G.S. Medical College and Hospital Faridkot | Elder sister 9 year Younger sister 7 year | Elder sister: Pigmentary changes in the retina. Younger Sister: Pigmentary changes in the retina. | Elder sister: Grade III renal parenchymal changes and bilateral cortico-medullary cysts. Younger sister: Renal parnchymal disease. | None | Not done |