Table 1 58 patients with PHARC syndrome from 37 different families have been described in literature to our knowledge
| Â | Â | Â | Â | Â | Polyneuropathy, cerebellar ataxia | Hearing loss | Retinitis pigmentosa | Cataract | Other | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Reference | Family | Patient (sex/age at first examination or diagnosis in years) | Country | Age at onset (years) | Neuropathy | Age at onset (years) | Ataxia | Age at onset (years) | Deafness | Age at onset (years) | Retinitis pigmentosa/Night blindness | Age at onset (years) | Cataract | Age at onset (years) | Other symptoms | Age at onset (years) |
Fiskerstrand et al. [1] | I.1 | ♀, 59 | Norway | Early twenties | Demyelinating sensory motor polyneuropathy | 38 | N | / | Sensorineural | 29 | Y | 38 | Y | 28 | Foot deformities | Childhood |
I.2 | ♂, 53 | Norway | 37 | Demyelinating polyneuropathy | 37 | Y | 37 | Sensorineural | Thirties | Y | 37 | Y | 49 | Pes cavus | Childhood | |
I.3 | ♂, 43 | Norway | Childhood | Demyelinating sensory motor polyneuropathy | 38 | Y | 43 | Y | Childhood | Y | 46 | Y | Twenties | Cerebellar atrophy | / | |
Fiskerstrand et al. [10] | II.1 | ♂, 58 | Norway | Teens | Demyelinating and axonal polyneuropathy | 51 | N | / | Y | Twenties | Y | 35 | Y | 25 | Pes cavus | NK |
II.2 | ♀, 54 | Norway | Teens | Demyelinating neuropathy | 53 | N | / | Y | Twenties | Y | 25 | Y | 32 | Pes cavus | NK | |
III | ♀, 36 | Norway | Teens | Demyelinating neuropathy | NK | Y | NK | Y | 10 | Y | 36 | Y | 15 | Pes cavus | NK | |
IV | ♂, 24 | Norway | Teens | Demyelinating neuropathy | NK | N | / | Y | Late in teens | N | / | Y | 16 | Pes cavus; hammer toes | NK | |
V | ♂, 16 | Norway | Teens | Demyelinating neuropathy | NK | N | / | Y | 13 | N | / | Y | NK | Pes cavus | NK | |
VI.1 | ♂, 11 | Algeria | 3–4 | Demyelinating neuropathy | NK | Y | 3–4 | N | / | N | / | N | / | N | NK | |
VI.2 | ♀, 10 | Algeria | 4–5 | Demyelinating neuropathy | NK | Y | 4–5 | N | / | N | / | N | / | N | NK | |
VII.1 | ♂, 44 | Algeria | 7–10 | Demyelinating neuropathy | NK | Y | 7–10 | Y | NK | N | / | NK | / | Pes cavus | NK | |
VII.2 | ♀, 26 | Algeria | 4–9 | Severe demyelinating sensory motor polyneuropathy | NK | Y | 4–9 | Y | NK | Y | NK | Y | NK | Pes cavus | NK | |
VIII.1 | ♀, 26 | Algeria | 6 | Severe demyelinating sensory motor polyneuropathy | NK | Y | 6–12 | Y | 6 | N | / | N | / | Pes cavus | NK | |
VIII.2 | ♀, 19 | Algeria | NK | Demyelinating neuropathy | 12 | N | / | NK | / | NK | / | NK | / | Pes cavus | 19 | |
IX | ♀, 32 | Algeria | 16–20 | Axonal polyneuropathy | NK | Y | 16–20 | Y | NK | N | / | N | / | Pes cavus | NK | |
X | ♀, 50 | USA | Teens | Sensory neuropathy | 34 | Y | 18 | Y | 17 | Y | Twenties | Y | 22 | Pes cavus | 34 | |
XI.1 | ♂, 24 | UAE | Childhood | Motor neuropathy | Childhood | Y | NK | Y | 14 | Y | Twenties | Y | 15 | Pes cavus | NK | |
XI.2 | ♂, 20 | UAE | 2 | Demyelinating neuropathy | 4 | Y | 2 | Y | 6 | Y | NK | Y | NK | Pes cavus | NK | |
XI.3 | ♀, 6 | UAE | < =6 | Demyelinating neuropathy | NK | Y | NK | Y | NK | N | / | Y | NK | N | / | |
Eisenberger et al. [4] | XII.1 | ♀, 55 | Lebanon | 17 | N | / | Y | 19 | Progressive severe to profound sensorineural | 17 | Y | 18 | Y | 26 | Atrophy of macular region Glaucoma Esotropia | 40 55 55 |
XII.2 | ♂, 53 | Lebanon | 18 | N | / | N | / | Progressive severe to profound sensorineural | 24 | Y | 18 | Y | 23 | Atrophy of macular region Glaucoma | 50 | |
Chen et al. [5] | XIII | ♀, 29 | USA | 3–5 | Demyelinating sensory motor neuropathy | 27 | Y | NK | Progressive severe sensorineural | Early childhood | Y | 22 | Y | 21 | Bilateral foot deformities Macular edema Mild dysmetria | At birth 22 NK |
Nishiguchi et al. [6] | XIV.1 | ♀, 78 | Spain | NK | N | / | N | / | Sensorineural | NK | Y | 38 | Y | NK | N | / |
XIV.2 | ♂, 75 | Spain | NK | N | / | N | / | Severe sensorineural | NK | Y | Thirties | Y | NK | Cholesteatoma | NK | |
XIV.3 | ♀, 72 | Spain | NK | N | / | N | / | N | / | Y | Thirties | Y | NK | N | / | |
XIV.4 | ♂, 66 | Spain | NK | N | / | N | / | Sensorineural | NK | Y | Thirties | Y | NK | N | / | |
XV | ♀, 38 | Netherlands | NK | Demyelinating sensory motor neuropathy | 38 | N | / | Sensorineural | Twenties | Y | NK | Y | 21 | N | / | |
XVI | ♂, 34 | Netherlands | NK | Distal sensory neuropathy | NK | Y | 35 | Moderate sensorineural | Thirties | Y | NK | Y | 29 | N | / | |
Yoshimura et al. [7] | XVII.1 | ♂, 64 | Japan | Early childhood | NK | NK | Y | 63 | Progressive profound sensorineural | < 10 | Y | 45 | Y | 45 | Epilepsy Cerebellar atrophy | NK |
XVII.2 | ♂, NK | Japan | NK | NK | NK | Y | 27 | Y | NK | Y | NK | NK | 18 | Epilepsy | NK | |
XVII.3 | ♂, NK | Japan | NK | NK | NK | NK | NK | Y | NK | Y | NK | N | / | NK | NK | |
XVIII | ♂, 56 | Japan | 15 | Peripheral neuropathy | NK | Y | 27 | Progressive severe sensorineural | 15 | Y | 22 | Y | 18 | N | / | |
Bek-Tol et al. [8] | XIX.1 | ♂, 31 | Netherlands | Childhood | Demyelinating polyneuropathy | NK | Y | Childhood | Y | 20 | NK | NK | Y | NK | Achilles contractures Cerebellar atrophy | Childhood NK |
XIX.2 | ♂, 25 | Netherlands | Childhood | Demyelinating polyneuropathy | NK | Y | NK | Y | NK | Y | Childhood | Y | NK | N | / | |
XIX.3 | ♂, 27 | Netherlands | Childhood | Demyelinating polyneuropathy | NK | N | / | N | / | Y | NK | Y | Childhood | N | / | |
Tingaud-Sequeira et al. [9] | XX | ♀, 31 | Sweden | 7 | Demyelinating sensory motor neuropathy | 15–16 | Y | 16 | Progressive profound sensorineural | 7 | Y | 16 | Y | 8 | N | / |
Lerat et al. [10] | XXI | ♂, 36 | France | 5 | Sensory motor polyneuropathy | 15 | Y | 15 | Sensorineural | 5 | N | / | Y | 28 | N | / |
Frasquet et al. [15] | XXII.1 | ♂, 41 | Spain | Childhood | Demyelinating polyneuropathy | 12 | Y | NK | Sensorineural | 30 | Y | NK | Y | NK | Foot deformities Cerebellar atrophy | Childhood NK |
XXII.2 | ♂, NK | Spain | Childhood | Demyelinating polyneuropathy | 17 | Y | NK | Sensorineural | 18–20 | Y | 40 | Y | 30 | Foot deformities Dysarthria, dysmetria Cerebellar atrophy | Childhood NK NK | |
Thimm et al. [11] | XXIII.1 | ♂, 23 | Iraq | 9 | Demyelinating sensory motor neuropathy | NK | Y | NK | Y | 9 | N | / | Y | NK | Bilateral pes cavus Cerebellar atrophy | NK 22 |
XXIII.2 | ♂, 27 | Iraq | 12 | Demyelinating sensory motor neuropathy | NK | Y | NK | Y | 12 | Y | NK | Y | NK | NK | NK | |
Igelman et al. [13] | XXIV | ♀, 48 | NK | 18 | NK | NK | NK | NK | N | / | Y | NK | Y | NK | Atrophy in macular region | NK |
XXV | ♀, 23 | NK | 20 | NK | NK | NK | NK | N | / | Y | NK | N | NK | Atrophy in macular region | NK | |
XXVI | ♂, 17 | NK | 16 | NK | NK | NK | NK | N | / | Y | NK | N | NK | Bull's eye maculopathy | NK | |
XXVII | ♂, 27 | NK | 22 | NK | NK | NK | NK | Moderate progressive | 20 | Y | NK | Y | NK | Atrophy in macular region | NK | |
XXVIII | ♂, 42 | NK | Early 30 s | NK | NK | NK | NK | Moderate progressive | 44 | Y | NK | Y | NK | Hole in macular region | NK | |
XXIX | ♂, 53 | NK | 18 | NK | NK | NK | NK | Severe progressive | 20 | Y | NK | N | NK | Atrophy in macular region | NK | |
Dias Bastos et al. [12] | XXX | ♀, 29 | Portugal | 16 | Demyelinating sensory motor neuropathy | NK | Y | NK | Y | 16 | Y | 19 | Y | 19 | Low stature Pes cavus Cerebellar atrophy | NK |
Nguyen et al. [14] | XXXI | ♂, 47 | NK | 8 | Y | 8 | NK | 8 | Y | 28 | Y | 45 | Y | 36 | N | / |
XXXII | ♀, 32 | NK | Childhood | Y | Childhood | NK | 45 | Y | 17 | Y | 32 | Y | 32 | N | / | |
XXXIII.1 | ♂, 33 | NK | 3 | Demyelinating neuropathy | 27 | NK | 27 | N | / | Y | 14 | Y | 3 | Macular atrophy | NK | |
XXXIII.2 | ♂, 33 | NK | 3 | Severe demyelinating polyneuropathy | Childhood | NK | Childhood | Y | NK | Y | 21 | Y | 3 | Macular atrophy | NK | |
XXXIII.3 | ♂, 38 | NK | 4 | Severe demyelinating polyneuropathy | Childhood | Y | Childhood | Y | 20 | Y | NK | Y | 4 | Macular atrophy Cerebellar atrophy | NK | |
XXXIV | ♀, 36 | NK | NK | NK | NK | NK | NK | Y | 12 | Y | 31 | Y | 32 | N | NK | |
XXXV.1 | ♂, 20 | Belgium | 16 | Demyelinating sensory motor neuropathy | 20 | N | / | Moderate sensorineural | 16 | Y | 16 | Y | 17 | Macular atrophy Cerebellar atrophy | NK | |
XXXV.2 | ♂, 17 | Belgium | 10 | Demyelinating sensory motor neuropathy | 18 | Y | NK | Moderate sensorineural | 10 | Y | 10 | Y | 10 | Macular atrophy Cerebellar atrophy | NK | |
XXXVI | ♀, 46 | NK | NK | Y | 47 | Y | 47 | Y | NK | Y | NK | Y | NK | Macular atrophy | NK | |
XXXVII | ♂, 39 | NK | NK | NK | NK | NK | NK | Y | 33 | Y | 23 | Y | 29 | Macular atrophy | NK | |