Clinical features, treatment methods, and evolution of birdshot chorioretinopathy in 5 different families.
OBJECTIVE
To report familial cases of birdshot chorioretinopathy (BSCR).


METHODS
Retrospective, observational case series.


METHODS
Five families with 2 members in each (10 patients) with BSCR were included in this case series from a cohort of 225 patients followed up for BSCR. A review of medical and angiographic records of familial cases of BSCR was performed. We described and compared in each family the histocompatibility leukocyte antigen (HLA) typing, age at onset, ethnic group, clinical features, fluorescein and indocyanine green angiography results, evolution of disease, and treatment used with efficiency.


RESULTS
HLA-A29 and HLA-B44 results were positive in 100% of patients tested. Mean age at onset was 46.5 years. All patients were White. Corticosteroids were required in 7 patients, and 3 patients had no treatment because of mild or moderate lesions. Cyclosporine A was administered in 2 patients from the same family. Period of follow-up ranged from 1 to 32 years (median, 7 years).


CONCLUSIONS
Familial forms of BSCR remain rare and do not justify systematic examination in relatives of patients with BSCR.
Trinh
Liem
L
Department of Ophthalmology, Pitié-Salpêtrière Hospital, Paris, France.
Bodaghi
Bahram
B
Fardeau
Christine
C
Monin
Claire
C
Labetoulle
Marc
M
Soubrane
Gisèle
G
Lehoang
Phuc
P
D000328:Adult; D017668:Age of Onset; D002825:Chorioretinitis / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D002908:Chronic Disease; D004396:Coloring Agents; D003131:Combined Modality Therapy; D016572:Cyclosporine / Q000627:therapeutic use; D005260:Female; D005451:Fluorescein Angiography; D005500:Follow-Up Studies; D005938:Glucocorticoids / Q000627:therapeutic use; D015234:HLA-A Antigens / Q000032:analysis; D015235:HLA-B Antigens / Q000032:analysis; D059948:HLA-B44 Antigen; D006650:Histocompatibility Testing; D006801:Humans; D007208:Indocyanine Green; D017075:Laser Coagulation; D008297:Male; D008875:Middle Aged; D012189:Retrospective Studies; D016896:Treatment Outcome; D014792:Visual Acuity / Q000502:physiology; D044465:White People
D004396:Coloring Agents; D005938:Glucocorticoids; D015234:HLA-A Antigens; C035524:HLA-A29 antigen; D015235:HLA-B Antigens; D059948:HLA-B44 Antigen; D016572:Cyclosporine; D007208:Indocyanine Green