A 66-year-old woman presented with a 6-month history of unsteadiness of gait. She had tunnel vision due to retinitis pigmentosa diagnosed at age 36. Her father, one paternal uncle, three sisters and one brother also had retinitis pigmentosa. Her grandparents and both children were unaffected as were the children of her siblings. Visual acuity and visual fields were not tested. Small muscles of the hand were weak and wasted on the left side. Rest of the neurological examination was unremarkable. Nerve conduction studies were normal, as were the results of lipoprotein electrophoresis and serum phytanic acid. MRI of cervical spine showed Luschka spurring and disc bulging, lateralised towards left, resulting in moderate left foraminal narrowing.Retinitis pigmentosa is a set of hereditary disorders of retina that feature degeneration of rod and cone photoreceptors. The disease is usually confined to eyes and may be inherited as autosomal dominant, autosomal recessive, or X-linked trait. 20-30% of patients have the disease as a part of syndrome where it is associated with non-ocular disease. Examples are Bardet-Biedl syndrome, Ushers syndrome, Refsums disease, Kearns-Sayre syndrome and abetalipoproteinemia. Difficulties with dark adaptation and night blindness are the usual symptoms at the onset of the disease. Peripheral vision is lost and eventually patients develop tunnel vision as the disease progresses. It is important to know that posterior subcapsular cataracts and cystoid macular edema may be associated (two treatable causes of visual loss in these patients with otherwise irreversible disease). Most patients are legally blind by age 40. On slit-lamp examination and on ophthalmoscopy retinal vessels appear attenuated. Intra-retinal pigmentation appears as bone-spicule deposits in the periphery of the fundus. These pigmentary deposits are due to the migration of the pigment cell layer into the neural retina due photoreceptor-cell death. Figure 1: Bone spicule deposits in the periphery of fundus Figure 2: Pigmentary changes of retinitis pigmentosa

A 66-year-old woman presented with a 6-month history of unsteadiness of gait. She had tunnel vision due to retinitis pigmentosa diagnosed at age 36. Her father, one paternal uncle, three sisters and one brother also had retinitis pigmentosa. Her grandparents and both children were unaffected as were the children of her siblings. Visual acuity and visual fields were not tested. Small muscles of the hand were weak and wasted on the left side. Rest of the neurological examination was unremarkable. Nerve conduction studies were normal, as were the results of lipoprotein electrophoresis and serum phytanic acid. MRI of cervical spine showed Luschka spurring and disc bulging, lateralised towards left, resulting in moderate left foraminal narrowing.Retinitis pigmentosa is a set of hereditary disorders of retina that feature degeneration of rod and cone photoreceptors. The disease is usually confined to eyes and may be inherited as autosomal dominant, autosomal recessive, or X-linked trait. 20-30% of patients have the disease as a part of syndrome where it is associated with non-ocular disease. Examples are Bardet-Biedl syndrome, Ushers syndrome, Refsums disease, Kearns-Sayre syndrome and abetalipoproteinemia. Difficulties with dark adaptation and night blindness are the usual symptoms at the onset of the disease. Peripheral vision is lost and eventually patients develop tunnel vision as the disease progresses. It is important to know that posterior subcapsular cataracts and cystoid macular edema may be associated (two treatable causes of visual loss in these patients with otherwise irreversible disease). Most patients are legally blind by age 40. On slit-lamp examination and on ophthalmoscopy retinal vessels appear attenuated. Intra-retinal pigmentation appears as bone-spicule deposits in the periphery of the fundus. These pigmentary deposits are due to the migration of the pigment cell layer into the neural retina due photoreceptor-cell death. Figure 1: Bone spicule deposits in the periphery of fundus Figure 2: Pigmentary changes of retinitis pigmentosa