The National Centre for Inherited Metabolic Disorders, Children's University Hospital, Dublin, Ireland.
J Inherit Metab Dis. 2010 Apr;33(2):129-32. doi: 10.1007/s10545-009-9042-5. Epub 2010 Feb 12.
Classic galactosaemia is caused by a recessively inherited deficiency of the enzyme galactose 1 phosphate uridyl transferase (GALT). Patients with classical galactosaemia are at increased risk of developing cataracts. We sought to retrospectively review the incidence and severity of cataracts in the cohort of galactosaemia patients attending our national treatment centre and to assess a possible effect of dietary compliance on cataract formation and the benefits of regular ophthalmic follow-up.
We retrospectively reviewed the clinical notes of all patients currently attending our centre with classic galactosaemia and identified all those in whom cataracts had been diagnosed by an ophthalmologist. Compliance to diet was also reviewed and compared with a matched control group.
Of 100 active patient charts, 14 had cataracts diagnosed at some stage. Six of these persisted whereas eight regressed. Three occurred soon after birth. Age at cataract formation varied from soon after birth to 19 years of age. There was no significant difference in the cataract group between those who were compliant and those who were noncompliant with diet (p = 0.09). There was no difference in compliance between the cataract group and the control group (p = 0.16). None of the cataracts found were affecting vision.
Cataracts affecting vision were not found in our cohort. A direct relationship between dietary compliance and cataract formation was not demonstrated. On the basis of our data, regular life-long ophthalmic exam of patients with classic galactosemia seems to be unnecessary.
TAKE-HOME MESSAGE: Cataracts which develop in patients with classical Galactosaemia do not usually affect vision and may be unrelated to compliance to diet.
经典型半乳糖血症是由隐性遗传的半乳糖-1-磷酸尿苷酰转移酶（GALT）缺乏引起的。经典型半乳糖血症患者发生白内障的风险增加。我们试图回顾性地评估在我们国家治疗中心就诊的半乳糖血症患者队列中白内障的发生率和严重程度，并评估饮食依从性对白内障形成的可能影响以及定期眼科随访的益处。
我们回顾性地审查了目前在我们中心就诊的所有经典型半乳糖血症患者的临床记录，并确定了所有经眼科医生诊断为白内障的患者。还审查了饮食的依从性，并与匹配的对照组进行了比较。
在 100 份活跃患者图表中，有 14 份在某个阶段被诊断出患有白内障。其中 6 例持续存在，8 例消退。其中 3 例发生在出生后不久。白内障形成的年龄从出生后不久到 19 岁不等。在饮食依从性方面，白内障组与不依从饮食组之间没有显著差异（p = 0.09）。白内障组与对照组之间的依从性也没有差异（p = 0.16）。发现的白内障均未影响视力。
我们的队列中未发现影响视力的白内障。饮食依从性与白内障形成之间没有直接关系。基于我们的数据，对经典型半乳糖血症患者进行常规终身眼科检查似乎没有必要。
在经典型半乳糖血症患者中发现的白内障通常不会影响视力，并且可能与饮食依从性无关。
