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Year : 2001  |  Volume : 49  |  Issue : 3  |  Page : 193-195

Retinitis pigmentosa patients with sickle cell disease and dextrocardia and situs inversus syndrome

Department of Genetics and Molecular Biology, Vision Research Foundation, Sankara Nethralaya, Chennai, India

Correspondence Address:
Chakravarthi Madhavan
Department of Genetics and Molecular Biology, Vision Research Foundation, Sankara Nethralaya, Chennai, India

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Source of Support: None, Conflict of Interest: None

PMID: 15887731

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How to cite this article:
Madhavan C, Bhende P, Gopal L, Vasanthi SB, Kumaramanickavel G. Retinitis pigmentosa patients with sickle cell disease and dextrocardia and situs inversus syndrome. Indian J Ophthalmol 2001;49:193-5

How to cite this URL:
Madhavan C, Bhende P, Gopal L, Vasanthi SB, Kumaramanickavel G. Retinitis pigmentosa patients with sickle cell disease and dextrocardia and situs inversus syndrome. Indian J Ophthalmol [serial online] 2001 [cited 2023 Dec 11];49:193-5. Available from: https://journals.lww.com/ijo/pages/default.aspx/text.asp?2001/49/3/193/22637

Two cases of retinitis pigmentosa (RP) with associated sickle cell disease in one patient, and situs inversus totalis in the other are reported. To our best knowledge, these associations have never been reported in RP.

Retinitis Pigmentosa (RP) is the term applied to a group of inherited disorders featuring night blindness, progressive visual field loss and abnormal or non-recordable electroretinogram. In India, autosomal recessive RP is the most common form.[1] The usual ocular feature of Sickle cell disease (SCD) is proliferative sickle cell retinopathy but rarely conjunctival sickling sign, lid oedema secondary to sickle crisis, iris atrophy or iris neovascularization may also be seen. Genetically, SCD is a more homogeneous disorder and usually has the point mutation GAG \?\ GTG resulting in the substitution of glutamic acid for valine at the sixth position of the beta-haemoglobin chain. In dextrocardia the apex of the heart points to the right and is located in the right hemi-thorax, while in situs inversus (SIT) dextrocardia is accompanied by lateral version of all viscerae.

  Case 1 Top

A 20-year-old male presented with a history of poor vision, night blindness and decreased field of vision in both eyes since childhood. His visual acuity was 1/60, N36 in both eyes. External ocular examination of both eyes revealed evidence of icterus while the ocular adnexae and anterior segments were within normal limits. When the patient was queried about the icterus, he volunteered the information that he was a known case of_SCD. Fundus examination showed bone spicule formation, pigmentation, arteriolar attenuation and optic atrophy in both eyes [Figure:1a]. None of the posterior segment abnormalities associated with SCD were present. In both eyes, the Goldmann perimetry showed central tubular field of 10-15 degrees and the ERG (Nicolet) showed extinguished cone, rod and mesopic waveforms.

Peripheral smear revealed red blood cells with mild degree of anisocytosis, poikilocytosis, polychromasia with hypochromic, macrocytic RBCs, target cells and sickle cells. White blood cells and platelets were adequate. The reticulocyte count was 15%. Sickling test was positive [Figure:1b], and haemoglobin electrophoresis[2] showed the sickle band. He was examined by a physician who ruled out other physical signs of SCD like hepatomegaly or spleenomegaly. The patient had four siblings [Figure:1c], of whom two had only RP (III3,5) and other two were normal (III 1,2). Even though these children were born to non-consanguineous parents, the inheritance pattern (for both RP and SCD) was suggestive of the autosomal recessive form.

  Case 2 Top

A 13-year-old boy, born of consanguineous parents, presented with a history of night blindness for the past ten years and decreased distance vision for two years. On examination, his best corrected visual acuity was 6/12; N8 in the right eye and 6/18; N12 in the left eye. Fundus examination in both eyes showed normal discs, attenuated retinal arterioles and pigmentary changes consistent with the diagnosis of retinitis pigmentosa. Goldmann visual field testing revealed generalized constriction of the visual fields with temporal scotoma in both eyes. The patient was not willing to undergo the ERG test. Of the patient's two siblings [Figure:2a], the elder one was normal while the younger had RP. The patient had a history of pulmonary tuberculosis and in the course of investigation for this, a chest X-ray had been done. The chest X-ray showed dextrocardia and the supplementary clinical examination, along with ECG recording, had revealed the diagnosis of situs inversus totalis [Figure:2b]. This patient was finally diagnosed to have RP and SIT. A peripheral lymphocyte culture for cytogenetic study was performed following the technique described by Rooney and Czepulkowski.[3]

All the affected children (siblings) mentioned in both pedigrees were clinically examined and did not show the clinical features of the two diseases, as reported in both the probands. The relevant haematological tests for sickle cell disease were carried out in all patients with retinitis pigmentosa in the sickle cell family; no haematological abnormalities were noted.

  Discussion Top

The patient with retinitis pigmentosa and SCD had a severe form of the former disease but a relatively mild form of the latter. It has been observed that the Western and the North African forms of SCD are clinically severe while the Indian and Saudi Arabian forms are always milder; the latter two are suspected to be of the same genetic origin.[4] In India, studies on tribal populations have shown SCD to be present in the south, central and eastern parts of the country with the HbS gene frequency varying between 0-40% in these groups.[4] In eight different states in India, estimates reveal 1,21,375 homozygotes and 2,434,170 heterozygotes/carriers, predominantly amongst tribal populations.[4] Our patient came from the eastern India state of Orissa, one of these endemic regions. Apparently, both the diseases in this patient should have been inherited independent of each other and the literature review clearly indicates an autosomal recessive inheritance.

Autosomal recessive inheritance for SIT has been reported.[5] In the family of the patient with SIT and RP, consanguineous parentage and another affected sibling suggest a recessive pattern of inheritance for both disorders. Presumably, in this patient too, these two disorders were inherited independent of each other. Chromosomal translocation (1;11) (p22:p13) was observed in a case of Mobius Syndrome with clinical features of cleft palate, dextrocardia, mandibular hypoplasia and multiple areas of diffuse brain volume loss.[6] However, cytogenetic studies of our patient revealed no abnormality. Similar ophthalmic associations have also been reported with situs inversus. For example, Ikeda et al reported a case of Alstrom syndrome associated with situs inversus totalis and characteristic liver cirrhosis.[7] A patient with corneal anaesthesia, dextrocardia, situs inversus and atrial septal defect has also been reported by Fernandes et al.[8]

  References Top

Kar B, John S, Kumaramanickavel G. Retinitis pigmentosa in India: a genetic and segregation analysis. Clin Genet 1995;47:75-79.  Back to cited text no. 1
Raphael SS. Lynch's Medical Laboratory Technology. Philadelphia: Saunders; 1976. pp1121-23.  Back to cited text no. 2
Rooney DE, Czepulkowski BH, editors. Human Cytogenetics Constitutional Analysis: A practical approach. Rickwood and Hames, IRL Press; 1992; Vol.I. pp31-54  Back to cited text no. 3
Rao VR. Genetics and epidemiology of sickle cell anaemia in India. ICMR Bull 1988;18:87-90.  Back to cited text no. 4
Mckusick VA. 270100 Mendelian Inheritance in Man. Baltimore: The Johns Hopkins University Press, 1992.  Back to cited text no. 5
Donahue SP, Wenger SL, Steele MW, Gorin MB. Broad-spectrum Mobius syndrome associated with a 1; 11 chromosome translocation. Ophthalmic-Paediatr-Genet. 1993;14:17-21.  Back to cited text no. 6
Ikeda Y, Morita Y, Matsuo Y, Akanuma Y, Itakura H. A case of Alstrom syndrome associated with situs inversus totalis and characteristic liver cirrhosis. Nippon Naika Gakkai Zasshi 1974;10:63:1303-11.  Back to cited text no. 7
Ferrnandes ST, Kuriakose M, Joseph MV. A case of congenital corneal anaesthesia with dextro cardia and situs inversus with ASD. Indian J Ophthalmol. 1976;:24:19-20.  Back to cited text no. 8


  [Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5]

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