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16 Horner Syndrome: Can it be Familial? Case series in a family and review of literature
  1. S Goyal,
  2. S Verma,
  3. R Ranjan,
  4. R Goyal
  1. Royal Glamorgan Hospital, UK


Ophthalmic literature reveals vague and rare references to Horner syndrome on a hereditary basis. We present a case series of mother and son with Horner syndrome, which was confirmed pharmacologically. They noticed symptoms on the same side at a similar age and no serious pathology was found.

Retrospective case review of notes:

Case 1: An 11-year-old male presented with 6 week history of anisocoria, mild right ptosis, no heterochromia and no history of trauma or previous surgeries. The anisocoria was more noticeable in the dark, Horner syndrome was confirmed with apraclonidine test.

Case 2: Mother of case 1, 50-year-old female diagnosed with right Horner syndrome at the age of 14 in Austria. The presenting features were anisocoria, a lack of sweating on the right side of her face. Diagnosis was reconfirmed pharmacologically.

Case 1 was referred to paediatrics for a systemic examination which was normal. He was investigated with urinary catecholamines, MRI head and CT neck and thorax which were all normal. Case 2 was investigated in the past with a normal CT head.

Horner syndrome results in the interruption of the oculo-sympathetic pathway and can indicate serious pathology in the head, chest or neck. Our cases demonstrate that familial presentation could indicate an idiopathic aetiology as it is unlikely to have pathological Horner syndrome in two first degree relatives.

Our case series highlights the importance of eliciting a family history of Horner syndrome and examining the family members. Positive family history can reassure patients while awaiting results of investigations.

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