Retinitis pigmentosa

Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.

Hepatosplenomegaly

Simultaneous enlargement of the liver and spleen.


Total: 2

                       


(per page)
PMID (PMCID)
29055896
(5868532)
 MIXED_SAMPLE Infant, Newborn
SIFD as a novel cause of severe fetal hydrops and neonatal anaemia with iron loading and marked extramedullary haemopoiesis.
Barton C, Kausar S, Kerr D, Bitetti S, Wynn R.
J Clin Pathol. 2018;71(3):275-278.
Other clinical manifestations of SIFD include cardiomyopathy, seizures, sensorineural hearing loss, renal dysfunction, metabolic abnormalities, hepatosplenomegaly and retinitis pigmentosa.Presentation of SIFD is variable but typically in early childhood with SA or with fever.
6668479
 MALE Child
Effects of polyunsaturated fatty acid diets on plasma lipids of patients with adrenomultineuronal degeneration, hepatosplenomegaly and fatty acid derangement.
Yao JK, Cannon KP, Holman RT, Dyck PJ.
J Neurol Sci. 1983;62(1-3):67-75.
These boys had mental retardation or maldevelopment, neurosensory hearing loss, retinitis pigmentosa, progressive muscular atrophy, hepatosplenomegaly and adrenal failure.