Table 2 of Reddy, Mol Vis 2004; 10:696-702.


Table 2. Clinical features of 24 PCG probands with CYP1B1 mutations

Details of clinical features of the 24 probands with CYP1B1 mutations indicating their genotype, age at onset, and diagnosis along with their visual outcomes following surgical intervention with respect to IOP and visual acuity at the last follow-up. The "Alleles" column indicates whether the patient was homozygous (H), heterozygous (h), or compound heterozygous (CH). Marriages were classified as consanguineous (C) or non-consanguineous (NC). The final Intraocular pressure (IOP) is given except when it was not available due to a phthisical eye. The final visual acuity is given as a snellen measurement when possible; otherwise, it is listed as hand movements (HM), counts fingers (CF), light perception with projection (LPP), fixes and follows light (FFL), and no light perception (NLP).

                                                                                Final IOP     Final Acuity
Patient                                                   Age at     Age at     ---------   -----------------
  ID              Mutation           Alleles   Marriage    onset    diagnosis   OD    OS      OD        OS
-------   ------------------------   -------   --------   -------   ---------   ---   ---   -------   -------
PCG050    g.3905-3927del23 bp          H          C       birth      7 year     24    30    CF (1m)   LPP
PCG107    L77P                         H          C       birth     18 year     26    20    LPP       LPP
PCG008    A115P                        H          C       birth      6 day      18    16    20/40     20/30
PCG122    M132R                        H          NC      2 month    6 year     NA    22    NLP       20/1200
PCG086    Q144P                        h          NC      birth     10 day       8    10    20/130    20/130
PCG131    P193L                        H          NC      birth     16 month    11    13    20/170    20/170
PCG155    E229K                        h          C       birth      2 month    12    12    20/50     20/50
PCG021    S239R                        H          C       birth      4 year     19    10    20/125    NLP
PCG147    S239R                        H          C       birth      3 month    10    20    FFL       FFL
PCG081    g.7900-7901delCG             H          C       birth      2 month    18    24    FFL       FFL
PCG171    R368H                        H          NC      birth      2 year     12    NA    FFL       FFL
PCG185    R368H                        H          C       birth     18 day      24    24    FFL       FFL
PCG186    R368H                        H          C       birth     27 day      16    18    20/1900   20/1900
PCG189    R368H                        H          C       birth      1 month    12    14    20/63     20/63
PCG182    R368H                        h          NC      birth      6 day      14    14    20/130    20/130
PCG120    G61E, R368H                  CH         NC      1 month    9 year     18    34    20/20     HM
PCG190    R368H, R390H                 CH         NC      birth     16 year     38    12    20/100    20/30
PCG180    R390C                        H          C       birth      1 Day      12    10    20/470    20/470
PCG184    R390C                        H          NC      birth     20 day      12    16    20/470    20/470
PCG154    R390H                        H          C       15 day     4 year     NA    21    NLP       LPP
PCG119    R390H                        H          C       birth     10 year     27    NA    20/125    NLP
PCG094    P437L                        H          C       birth     10 day      26    24    20/200    LPP
PCG009    G466D                        H          C       birth      2 month    15    NA    20/760    NLP
PCG110    g.8037-8046dupTCATGCCACC     H          C       birth      2 year     16    26    FFL       FFL

Reddy, Mol Vis 2004; 10:696-702 <http://www.molvis.org/molvis/v10/a84/>
©2004 Molecular Vision <http://www.molvis.org/molvis/>
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